ClinVar Miner

List of variants in gene NSD1 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 121
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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.5623-22G>A rs79098301 0.04787
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.927+48A>G rs79928962 0.01809
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.5147-49A>C rs74436451 0.00398
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.4378+26C>T rs139601377 0.00189
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.339C>T (p.Cys113=) rs77093936 0.00108
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
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.3796+22A>T rs111663030 0.00071
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.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_022455.5(NSD1):c.4966+43G>A rs184344717 0.00036
NM_022455.5(NSD1):c.4949A>G (p.Asn1650Ser) rs148839758 0.00034
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.1635G>A (p.Thr545=) rs371958844 0.00021
NM_022455.5(NSD1):c.6464-5T>C rs545039997 0.00019
NM_022455.5(NSD1):c.6464-8G>T rs577262396 0.00019
NM_022455.5(NSD1):c.6991G>A (p.Asp2331Asn) rs772981865 0.00019
NM_022455.5(NSD1):c.-8G>A rs199639292 0.00016
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) rs61756006 0.00016
NM_022455.5(NSD1):c.7421A>C (p.Gln2474Pro) rs202220730 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.1317C>T (p.Asn439=) rs150421873 0.00010
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_022455.5(NSD1):c.8022G>A (p.Glu2674=) rs149632999 0.00010
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_022455.5(NSD1):c.1477C>G (p.Pro493Ala) rs375051877 0.00009
NM_022455.5(NSD1):c.6429C>T (p.His2143=) rs121908068 0.00009
NM_022455.5(NSD1):c.7275A>G (p.Leu2425=) rs139879749 0.00009
NM_022455.5(NSD1):c.72C>T (p.Ala24=) rs147146776 0.00009
NM_022455.5(NSD1):c.340A>G (p.Thr114Ala) rs749444972 0.00007
NM_022455.5(NSD1):c.395G>C (p.Cys132Ser) rs28932174 0.00006
NM_022455.5(NSD1):c.4642-7T>C rs183928380 0.00006
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736 0.00005
NM_022455.5(NSD1):c.5712C>T (p.Pro1904=) rs756321444 0.00005
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) rs541077303 0.00004
NM_022455.5(NSD1):c.1224A>G (p.Gly408=) rs587784069 0.00003
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
NM_022455.5(NSD1):c.5532G>A (p.Arg1844=) rs201357386 0.00003
NM_022455.5(NSD1):c.7161G>A (p.Pro2387=) rs369778799 0.00003
NM_022455.5(NSD1):c.5510-10G>A rs767198805 0.00002
NM_022455.5(NSD1):c.1716C>T (p.Ser572=) rs375093905 0.00001
NM_022455.5(NSD1):c.2340G>A (p.Ser780=) rs766703389 0.00001
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly) rs570278338 0.00001
NM_022455.5(NSD1):c.6387G>A (p.Gln2129=) rs998492947 0.00001
NM_022455.5(NSD1):c.6408A>G (p.Pro2136=) rs771993179 0.00001
NM_022455.5(NSD1):c.846A>C (p.Pro282=) rs377539686 0.00001
NM_022455.5(NSD1):c.1096G>A (p.Val366Met) rs1172667661
NM_022455.5(NSD1):c.1133T>C (p.Val378Ala)
NM_022455.5(NSD1):c.1236+17G>A rs886038671
NM_022455.5(NSD1):c.1237-37del rs886038672
NM_022455.5(NSD1):c.1606A>C (p.Asn536His) rs1554188985
NM_022455.5(NSD1):c.1964G>A (p.Ser655Asn)
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs) rs1581319715
NM_022455.5(NSD1):c.2309G>A (p.Gly770Asp)
NM_022455.5(NSD1):c.2358G>C (p.Lys786Asn)
NM_022455.5(NSD1):c.2370A>C (p.Ile790=)
NM_022455.5(NSD1):c.2731C>T (p.Leu911=) rs886038673
NM_022455.5(NSD1):c.2776C>A (p.Arg926=) rs886038674
NM_022455.5(NSD1):c.2860A>G (p.Lys954Glu)
NM_022455.5(NSD1):c.3089_3090delinsCT (p.Leu1030Ser)
NM_022455.5(NSD1):c.3151G>A (p.Glu1051Lys)
NM_022455.5(NSD1):c.319G>A (p.Ala107Thr)
NM_022455.5(NSD1):c.3207G>C (p.Gln1069His)
NM_022455.5(NSD1):c.3242G>C (p.Gly1081Ala)
NM_022455.5(NSD1):c.3639A>G (p.Ile1213Met) rs1425698482
NM_022455.5(NSD1):c.395G>A (p.Cys132Tyr)
NM_022455.5(NSD1):c.4062C>T (p.Gly1354=) rs144562009
NM_022455.5(NSD1):c.4072C>T (p.Gln1358Ter)
NM_022455.5(NSD1):c.4192+16G>T rs886038675
NM_022455.5(NSD1):c.42G>C (p.Leu14=)
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.5(NSD1):c.4433C>T (p.Ala1478Val)
NM_022455.5(NSD1):c.4498-10del rs200890017
NM_022455.5(NSD1):c.4508T>G (p.Met1503Arg)
NM_022455.5(NSD1):c.4509G>T (p.Met1503Ile)
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.4715G>A (p.Gly1572Glu)
NM_022455.5(NSD1):c.5303+37C>A rs115164783
NM_022455.5(NSD1):c.5510-1G>A
NM_022455.5(NSD1):c.5766C>T (p.Pro1922=)
NM_022455.5(NSD1):c.583T>G (p.Tyr195Asp)
NM_022455.5(NSD1):c.5849T>C (p.Leu1950Ser)
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.5(NSD1):c.6151+1G>T
NM_022455.5(NSD1):c.6216T>G (p.Cys2072Trp)
NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer) rs1562098870
NM_022455.5(NSD1):c.6501C>A (p.Cys2167Ter)
NM_022455.5(NSD1):c.6701C>G (p.Thr2234Ser)
NM_022455.5(NSD1):c.6909G>A (p.Gly2303=)
NM_022455.5(NSD1):c.7410T>C (p.Ala2470=)
NM_022455.5(NSD1):c.7757G>A (p.Gly2586Asp)
NM_022455.5(NSD1):c.7876dup (p.Ala2626fs)
NM_022455.5(NSD1):c.7948T>C (p.Trp2650Arg)
NM_022455.5(NSD1):c.7955C>T (p.Ala2652Val) rs886038676
NM_022455.5(NSD1):c.950C>T (p.Thr317Met)

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