ClinVar Miner

List of variants in gene NSD1 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_022455.5(NSD1):c.1482C>T (p.Cys494=) rs1363405 0.36334
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=) rs11740250 0.16701
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro) rs28932178 0.15259
NM_022455.5(NSD1):c.1749G>A (p.Glu583=) rs3733874 0.12785
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu) rs3733875 0.12636
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=) rs28932181 0.10490
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile) rs35848863 0.04785
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr) rs34165241 0.04781
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_022455.5(NSD1):c.1515T>C (p.Asn505=) rs114747882 0.00694
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) rs28932176 0.00477
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00453
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=) rs148891711 0.00173
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_022455.5(NSD1):c.339C>T (p.Cys113=) rs77093936 0.00108
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln) rs138405802 0.00087
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002 0.00058
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637 0.00035
NM_022455.5(NSD1):c.4949A>G (p.Asn1650Ser) rs148839758 0.00034
NM_022455.5(NSD1):c.639C>T (p.Ser213=) rs755931458 0.00032
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) rs142703625 0.00028
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp) rs143571876 0.00024
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys) rs138673583 0.00022
NM_022455.5(NSD1):c.1635G>A (p.Thr545=) rs371958844 0.00021
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu) rs141065357 0.00020
NM_022455.5(NSD1):c.6991G>A (p.Asp2331Asn) rs772981865 0.00019
NM_022455.5(NSD1):c.2427G>A (p.Glu809=) rs61744224 0.00018
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys) rs200115665 0.00018
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) rs559617787 0.00017
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) rs61756006 0.00016
NM_022455.5(NSD1):c.3221G>A (p.Arg1074His) rs766901249 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) rs201327209 0.00014
NM_022455.5(NSD1):c.3021T>C (p.Ala1007=) rs201312975 0.00014
NM_022455.5(NSD1):c.5623-4C>T rs545197514 0.00012
NM_022455.5(NSD1):c.7933C>T (p.Leu2645=) rs61730553 0.00012
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_022455.5(NSD1):c.436A>G (p.Ile146Val) rs745885259 0.00011
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_022455.5(NSD1):c.4665G>A (p.Leu1555=) rs779537845 0.00009
NM_022455.5(NSD1):c.6795C>T (p.Ser2265=) rs148585227 0.00009
NM_022455.5(NSD1):c.72C>T (p.Ala24=) rs147146776 0.00009
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys) rs377684553 0.00008
NM_022455.5(NSD1):c.7350T>C (p.Asn2450=) rs200241618 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) rs200856103 0.00007
NM_022455.5(NSD1):c.3090G>T (p.Leu1030Phe) rs201860097 0.00007
NM_022455.5(NSD1):c.684A>G (p.Pro228=) rs1057522319 0.00006
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr) rs142023792 0.00005
NM_022455.5(NSD1):c.3741G>A (p.Met1247Ile) rs760307871 0.00005
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu) rs374740802 0.00004
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) rs188847458 0.00004
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) rs541077303 0.00004
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) rs746599803 0.00004
NM_022455.5(NSD1):c.7367T>C (p.Met2456Thr) rs761179792 0.00004
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser) rs141911573 0.00003
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=) rs147235302 0.00003
NM_022455.5(NSD1):c.5967A>G (p.Gln1989=) rs544317310 0.00003
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=) rs745760201 0.00003
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala) rs770522999 0.00003
NM_022455.5(NSD1):c.1176C>T (p.Phe392=) rs763543904 0.00002
NM_022455.5(NSD1):c.1495G>A (p.Ala499Thr) rs587784075 0.00002
NM_022455.5(NSD1):c.1500A>G (p.Arg500=) rs1469000222 0.00002
NM_022455.5(NSD1):c.241A>G (p.Met81Val) rs763781326 0.00002
NM_022455.5(NSD1):c.3599G>A (p.Arg1200Gln) rs753389957 0.00002
NM_022455.5(NSD1):c.5031T>C (p.Ala1677=) rs766572224 0.00002
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=) rs587784136 0.00002
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro) rs776592297 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_022455.5(NSD1):c.8014A>G (p.Lys2672Glu) rs370095667 0.00002
NM_022455.5(NSD1):c.8025A>G (p.Gln2675=) rs199895437 0.00002
NM_022455.5(NSD1):c.1290G>A (p.Gln430=) rs535674820 0.00001
NM_022455.5(NSD1):c.1646A>C (p.Asn549Thr) rs756449994 0.00001
NM_022455.5(NSD1):c.2007C>T (p.Phe669=) rs530934556 0.00001
NM_022455.5(NSD1):c.2331A>C (p.Leu777=) rs772447375 0.00001
NM_022455.5(NSD1):c.2944G>C (p.Gly982Arg) rs587784091 0.00001
NM_022455.5(NSD1):c.331A>G (p.Ile111Val) rs1201715787 0.00001
NM_022455.5(NSD1):c.3931C>T (p.Arg1311Cys) rs886060443 0.00001
NM_022455.5(NSD1):c.3959G>A (p.Arg1320Gln) rs1388537733 0.00001
NM_022455.5(NSD1):c.4081C>G (p.Leu1361Val) rs748973344 0.00001
NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala) rs1418961998 0.00001
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu) rs748597598 0.00001
NM_022455.5(NSD1):c.7076C>T (p.Pro2359Leu) rs769699822 0.00001
NM_022455.5(NSD1):c.7137A>G (p.Ser2379=) rs762447935 0.00001
NM_022455.5(NSD1):c.7402C>T (p.Arg2468Trp) rs767815479 0.00001
NM_022455.5(NSD1):c.7809C>G (p.Leu2603=) rs769301382 0.00001
NM_022455.5(NSD1):c.8050G>A (p.Ala2684Thr) rs188326949 0.00001
NM_022455.5(NSD1):c.1064-5C>A rs961502921
NM_022455.5(NSD1):c.1078C>T (p.Pro360Ser)
NM_022455.5(NSD1):c.140C>G (p.Thr47Ser) rs1562097679
NM_022455.5(NSD1):c.1414C>A (p.Leu472Ile)
NM_022455.5(NSD1):c.1454A>G (p.His485Arg)
NM_022455.5(NSD1):c.1528A>G (p.Ser510Gly)
NM_022455.5(NSD1):c.1546A>G (p.Ile516Val)
NM_022455.5(NSD1):c.1578G>A (p.Arg526=) rs1562205567
NM_022455.5(NSD1):c.1685A>G (p.Asn562Ser)
NM_022455.5(NSD1):c.1702_1703insAG (p.Phe568Ter) rs1554189042
NM_022455.5(NSD1):c.1745T>C (p.Phe582Ser)
NM_022455.5(NSD1):c.1778T>C (p.Leu593Ser)
NM_022455.5(NSD1):c.1790C>G (p.Ala597Gly)
NM_022455.5(NSD1):c.1801A>C (p.Lys601Gln)
NM_022455.5(NSD1):c.1811G>A (p.Arg604Gln) rs61744451
NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu) rs61744451
NM_022455.5(NSD1):c.1840G>A (p.Val614Met)
NM_022455.5(NSD1):c.1940G>A (p.Ser647Asn)
NM_022455.5(NSD1):c.2045A>C (p.Glu682Ala)
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly) rs1581318727
NM_022455.5(NSD1):c.2155G>A (p.Ala719Thr)
NM_022455.5(NSD1):c.2186A>G (p.Asn729Ser)
NM_022455.5(NSD1):c.2194G>C (p.Asp732His)
NM_022455.5(NSD1):c.2209dup (p.Thr737fs) rs1763260541
NM_022455.5(NSD1):c.2229G>C (p.Gln743His)
NM_022455.5(NSD1):c.2249C>T (p.Ala750Val)
NM_022455.5(NSD1):c.22C>T (p.Pro8Ser)
NM_022455.5(NSD1):c.2407C>T (p.Pro803Ser)
NM_022455.5(NSD1):c.242T>C (p.Met81Thr)
NM_022455.5(NSD1):c.2473G>T (p.Ala825Ser)
NM_022455.5(NSD1):c.2524A>G (p.Met842Val)
NM_022455.5(NSD1):c.2552A>T (p.Asp851Val)
NM_022455.5(NSD1):c.2555_2556del (p.Ile852fs) rs1763290288
NM_022455.5(NSD1):c.2560A>G (p.Thr854Ala)
NM_022455.5(NSD1):c.2575_2576del (p.His859fs)
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs) rs1131691754
NM_022455.5(NSD1):c.274G>A (p.Asp92Asn)
NM_022455.5(NSD1):c.2776C>A (p.Arg926=) rs886038674
NM_022455.5(NSD1):c.2800G>T (p.Val934Phe)
NM_022455.5(NSD1):c.2815_2817dup (p.Pro939_Gly940insPro)
NM_022455.5(NSD1):c.2909A>G (p.Asp970Gly)
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) rs587784092
NM_022455.5(NSD1):c.3001G>A (p.Asp1001Asn)
NM_022455.5(NSD1):c.3012C>A (p.Asp1004Glu)
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)
NM_022455.5(NSD1):c.3056G>C (p.Arg1019Pro)
NM_022455.5(NSD1):c.3079T>G (p.Ser1027Ala)
NM_022455.5(NSD1):c.3089_3090delinsCT (p.Leu1030Ser)
NM_022455.5(NSD1):c.3099T>C (p.Ala1033=)
NM_022455.5(NSD1):c.3197C>G (p.Ala1066Gly)
NM_022455.5(NSD1):c.3224G>A (p.Gly1075Glu) rs1562212091
NM_022455.5(NSD1):c.3242G>C (p.Gly1081Ala)
NM_022455.5(NSD1):c.3247G>A (p.Glu1083Lys)
NM_022455.5(NSD1):c.3340G>T (p.Val1114Phe)
NM_022455.5(NSD1):c.3442C>G (p.Leu1148Val)
NM_022455.5(NSD1):c.3446A>C (p.Asn1149Thr)
NM_022455.5(NSD1):c.3451_3452del (p.Val1151fs) rs1554190262
NM_022455.5(NSD1):c.3485G>A (p.Arg1162His)
NM_022455.5(NSD1):c.3509C>T (p.Pro1170Leu)
NM_022455.5(NSD1):c.3563G>A (p.Arg1188Lys)
NM_022455.5(NSD1):c.3598C>T (p.Arg1200Trp)
NM_022455.5(NSD1):c.3757A>G (p.Ile1253Val) rs1581327291
NM_022455.5(NSD1):c.3763A>C (p.Ser1255Arg)
NM_022455.5(NSD1):c.3788del (p.Pro1263fs) rs1763397665
NM_022455.5(NSD1):c.3794C>G (p.Pro1265Arg)
NM_022455.5(NSD1):c.37C>A (p.Leu13Met)
NM_022455.5(NSD1):c.381A>T (p.Lys127Asn)
NM_022455.5(NSD1):c.3891del (p.Lys1297fs) rs1765403726
NM_022455.5(NSD1):c.4029A>G (p.Pro1343=)
NM_022455.5(NSD1):c.4049C>T (p.Pro1350Leu)
NM_022455.5(NSD1):c.417G>A (p.Gln139=)
NM_022455.5(NSD1):c.4192+2T>G rs587784111
NM_022455.5(NSD1):c.4211G>A (p.Arg1404His)
NM_022455.5(NSD1):c.4257C>A (p.Asp1419Glu)
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.5(NSD1):c.4521G>A (p.Thr1507=) rs778642917
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.4651A>T (p.Lys1551Ter)
NM_022455.5(NSD1):c.4756T>C (p.Cys1586Arg) rs1554198434
NM_022455.5(NSD1):c.4760G>A (p.Arg1587His)
NM_022455.5(NSD1):c.482A>T (p.Asp161Val)
NM_022455.5(NSD1):c.4860C>T (p.Val1620=) rs1756523594
NM_022455.5(NSD1):c.4876A>G (p.Thr1626Ala)
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe) rs587784129
NM_022455.5(NSD1):c.490G>A (p.Val164Ile)
NM_022455.5(NSD1):c.4947C>T (p.Ala1649=)
NM_022455.5(NSD1):c.4949_4950del (p.Asn1650fs) rs1554199501
NM_022455.5(NSD1):c.5009C>G (p.Ala1670Gly)
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter) rs2149918110
NM_022455.5(NSD1):c.5257A>T (p.Lys1753Ter)
NM_022455.5(NSD1):c.5622+1G>A
NM_022455.5(NSD1):c.5639G>A (p.Gly1880Asp) rs768219323
NM_022455.5(NSD1):c.5751C>G (p.Leu1917=)
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.5(NSD1):c.5937A>T (p.Glu1979Asp)
NM_022455.5(NSD1):c.5979C>A (p.Ile1993=)
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.5992A>G (p.Met1998Val)
NM_022455.5(NSD1):c.6066C>T (p.Cys2022=)
NM_022455.5(NSD1):c.6146A>C (p.Lys2049Thr)
NM_022455.5(NSD1):c.6184T>C (p.Cys2062Arg)
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met) rs1759549616
NM_022455.5(NSD1):c.6259-4G>T rs764710462
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.5(NSD1):c.6474_6476del (p.Glu2158_Cys2159delinsAsp)
NM_022455.5(NSD1):c.6479C>T (p.Pro2160Leu)
NM_022455.5(NSD1):c.6606T>C (p.Cys2202=)
NM_022455.5(NSD1):c.6722C>T (p.Thr2241Ile)
NM_022455.5(NSD1):c.7045C>T (p.Pro2349Ser)
NM_022455.5(NSD1):c.7046C>G (p.Pro2349Arg)
NM_022455.5(NSD1):c.7067C>T (p.Thr2356Met)
NM_022455.5(NSD1):c.7126G>A (p.Glu2376Lys)
NM_022455.5(NSD1):c.7182T>C (p.Ile2394=) rs1760115755
NM_022455.5(NSD1):c.7390C>T (p.Arg2464Cys)
NM_022455.5(NSD1):c.7568C>T (p.Ser2523Leu)
NM_022455.5(NSD1):c.7643T>C (p.Leu2548Ser)
NM_022455.5(NSD1):c.7684G>C (p.Gly2562Arg)
NM_022455.5(NSD1):c.7831C>G (p.Pro2611Ala)
NM_022455.5(NSD1):c.7889C>A (p.Ala2630Asp)
NM_022455.5(NSD1):c.7905G>A (p.Gly2635=)
NM_022455.5(NSD1):c.7974G>C (p.Leu2658Phe)
NM_022455.5(NSD1):c.887C>G (p.Pro296Arg) rs1189702665
NM_022455.5(NSD1):c.934C>T (p.Pro312Ser)
NM_022455.5(NSD1):c.952C>T (p.Pro318Ser)

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