ClinVar Miner

List of variants in gene NSD1 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
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.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
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.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.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.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.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.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.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.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.5031T>C (p.Ala1677=) rs766572224 0.00002
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=) rs587784136 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 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.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.4081C>G (p.Leu1361Val) rs748973344 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.7809C>G (p.Leu2603=) rs769301382 0.00001
NM_022455.5(NSD1):c.8050G>A (p.Ala2684Thr) rs188326949 0.00001
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.1840G>A (p.Val614Met)
NM_022455.5(NSD1):c.2155G>A (p.Ala719Thr)
NM_022455.5(NSD1):c.2249C>T (p.Ala750Val)
NM_022455.5(NSD1):c.22C>T (p.Pro8Ser)
NM_022455.5(NSD1):c.2524A>G (p.Met842Val)
NM_022455.5(NSD1):c.2776C>A (p.Arg926=) rs886038674
NM_022455.5(NSD1):c.3012C>A (p.Asp1004Glu)
NM_022455.5(NSD1):c.3079T>G (p.Ser1027Ala)
NM_022455.5(NSD1):c.3099T>C (p.Ala1033=)
NM_022455.5(NSD1):c.3446A>C (p.Asn1149Thr)
NM_022455.5(NSD1):c.3509C>T (p.Pro1170Leu)
NM_022455.5(NSD1):c.3598C>T (p.Arg1200Trp)
NM_022455.5(NSD1):c.381A>T (p.Lys127Asn)
NM_022455.5(NSD1):c.4029A>G (p.Pro1343=)
NM_022455.5(NSD1):c.417G>A (p.Gln139=)
NM_022455.5(NSD1):c.4257C>A (p.Asp1419Glu)
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.4860C>T (p.Val1620=) rs1756523594
NM_022455.5(NSD1):c.4947C>T (p.Ala1649=)
NM_022455.5(NSD1):c.5751C>G (p.Leu1917=)
NM_022455.5(NSD1):c.5979C>A (p.Ile1993=)
NM_022455.5(NSD1):c.6066C>T (p.Cys2022=)
NM_022455.5(NSD1):c.6259-4G>T rs764710462
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.7182T>C (p.Ile2394=) rs1760115755
NM_022455.5(NSD1):c.7905G>A (p.Gly2635=)

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