ClinVar Miner

List of variants in gene NSD1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
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.2835T>C (p.Ser945=) rs145987330 0.00133
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_022455.5(NSD1):c.4949A>G (p.Asn1650Ser) rs148839758 0.00034
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
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.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys) rs200115665 0.00018
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140 0.00018
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) rs559617787 0.00017
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.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His) rs763399938 0.00010
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_022455.5(NSD1):c.4966+6G>A rs373129093 0.00010
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_022455.5(NSD1):c.6429C>T (p.His2143=) rs121908068 0.00009
NM_022455.5(NSD1):c.2031T>G (p.Ser677=) rs143705256 0.00006
NM_022455.5(NSD1):c.1782T>C (p.Pro594=) rs200002555 0.00004
NM_022455.5(NSD1):c.2425G>A (p.Glu809Lys) rs371421105 0.00004
NM_022455.5(NSD1):c.2766G>A (p.Thr922=) rs369705297 0.00004
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) rs541077303 0.00004
NM_022455.5(NSD1):c.3540A>G (p.Lys1180=) rs776683728 0.00004
NM_022455.5(NSD1):c.5007C>T (p.His1669=) rs146414176 0.00004
NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu) rs201609442 0.00003
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_022455.5(NSD1):c.7164G>A (p.Pro2388=) rs780619128 0.00002
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) rs147033795 0.00002
NM_022455.5(NSD1):c.1716C>T (p.Ser572=) rs375093905 0.00001
NM_022455.5(NSD1):c.1976A>G (p.Asp659Gly) rs754514832 0.00001
NM_022455.5(NSD1):c.3657A>G (p.Thr1219=) rs886060442 0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) rs530920626 0.00001
NM_022455.5(NSD1):c.7137A>G (p.Ser2379=) rs762447935 0.00001
NM_022455.5(NSD1):c.8050G>A (p.Ala2684Thr) rs188326949 0.00001
NM_022455.5(NSD1):c.1034_1037dup (p.Leu346fs) rs2149821358
NM_022455.5(NSD1):c.1052C>G (p.Ser351Ter) rs1761728622
NM_022455.5(NSD1):c.1089G>A (p.Gln363=)
NM_022455.5(NSD1):c.1236+5G>A
NM_022455.5(NSD1):c.1260A>G (p.Lys420=) rs1397377820
NM_022455.5(NSD1):c.1694C>T (p.Pro565Leu)
NM_022455.5(NSD1):c.1711T>G (p.Ser571Ala)
NM_022455.5(NSD1):c.2073C>T (p.Ala691=) rs1054023528
NM_022455.5(NSD1):c.2091A>G (p.Lys697=)
NM_022455.5(NSD1):c.2209A>G (p.Thr737Ala)
NM_022455.5(NSD1):c.2687A>G (p.Gln896Arg) rs1581321959
NM_022455.5(NSD1):c.2778G>T (p.Arg926=)
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) rs587784092
NM_022455.5(NSD1):c.3192T>C (p.Leu1064=)
NM_022455.5(NSD1):c.3231_3237delinsTC (p.Leu1078fs) rs2149847729
NM_022455.5(NSD1):c.3331G>A (p.Asp1111Asn)
NM_022455.5(NSD1):c.3368del (p.Ser1123fs) rs2149848219
NM_022455.5(NSD1):c.3446A>C (p.Asn1149Thr)
NM_022455.5(NSD1):c.346T>G (p.Leu116Val) rs1581090282
NM_022455.5(NSD1):c.3546C>G (p.Asn1182Lys) rs1562213440
NM_022455.5(NSD1):c.3575del (p.Pro1192fs) rs1064796114
NM_022455.5(NSD1):c.3637A>G (p.Ile1213Val)
NM_022455.5(NSD1):c.3760C>A (p.Pro1254Thr) rs1035426339
NM_022455.5(NSD1):c.3797-9_3797-7del
NM_022455.5(NSD1):c.3833G>A (p.Ser1278Asn) rs1765400132
NM_022455.5(NSD1):c.3975T>C (p.Ala1325=)
NM_022455.5(NSD1):c.4193-8C>T
NM_022455.5(NSD1):c.4378+5G>A
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=) rs150920473
NM_022455.5(NSD1):c.4521G>A (p.Thr1507=) rs778642917
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp) rs1766450095
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.5(NSD1):c.4606G>A (p.Gly1536Ser) rs1766459877
NM_022455.5(NSD1):c.4759C>T (p.Arg1587Cys) rs764613088
NM_022455.5(NSD1):c.4944A>T (p.Pro1648=)
NM_022455.5(NSD1):c.5046T>G (p.Leu1682=)
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.5(NSD1):c.5768_5769del (p.Thr1923fs) rs1758801009
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.5(NSD1):c.585T>C (p.Tyr195=)
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.5(NSD1):c.6123C>G (p.Gly2041=) rs1320561007
NM_022455.5(NSD1):c.642A>C (p.Thr214=)
NM_022455.5(NSD1):c.658G>T (p.Gly220Cys) rs755449099
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
NM_022455.5(NSD1):c.6899del (p.Ala2300fs) rs1581564208
NM_022455.5(NSD1):c.7234G>T (p.Ala2412Ser)
NM_022455.5(NSD1):c.7502C>T (p.Pro2501Leu) rs950485640
NM_022455.5(NSD1):c.7765C>T (p.Leu2589=)
NM_022455.5(NSD1):c.858del (p.Ser287fs) rs2149757050
NM_022455.5(NSD1):c.985G>A (p.Ala329Thr) rs1761726567

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