ClinVar Miner

List of variants studied for autosomal anomaly by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_006940.6(SOX5):c.1129G>A (p.Asp377Asn) rs371364235 0.00001
NM_022455.5(NSD1):c.5843G>A (p.Arg1948His) rs746726463 0.00001
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu) rs748597598 0.00001
GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1
GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3
GRCh37/hg19 16p11.2(chr16:28784627-29230353)x1
GRCh37/hg19 16p11.2(chr16:28834531-29001678)x1
GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3
GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1
GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1
GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3
GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1
GRCh37/hg19 16p11.2(chr16:29675000-30200058)x3
GRCh37/hg19 16p11.2(chr16:29675000-30200335)x3
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1
GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1
GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1
GRCh37/hg19 16p12.2(chr16:21869250-22524572)x1
GRCh37/hg19 16p12.2(chr16:21964695-22376385)x1
GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1
GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3
GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3
GRCh37/hg19 17p12(chr17:14095256-15477547)x1
GRCh37/hg19 17p12(chr17:14096089-15492591)x3
GRCh37/hg19 17q12(chr17:34752221-36105007)x3
GRCh37/hg19 17q12(chr17:34807069-36284994)x1
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3
GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3
GRCh37/hg19 1q21.1-21.2(chr1:146022474-147599371)x3
GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1
GRCh37/hg19 3q29(chr3:194790394-197961930)x3
GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3
GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3
NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys) rs2108958817
NM_001134673.4(NFIA):c.106C>T (p.Arg36Ter) rs2100414085
NM_001134673.4(NFIA):c.1086dup (p.Ala363fs) rs2100520890
NM_001134673.4(NFIA):c.243dup (p.Asp82fs) rs1646257371
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1174-2A>G
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.721_722del (p.Asn241fs) rs1688740919
NM_001378120.1(MBD5):c.2612T>C (p.Val871Ala) rs753164504
NM_001378414.1(HDAC4):c.1387C>T (p.Gln463Ter) rs2040205774
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala) rs1799677960
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val) rs768570497
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg) rs1554139743
NM_002397.5(MEF2C):c.402+145A>G rs1777617806
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_003470.3(USP7):c.691A>G (p.Thr231Ala)
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter) rs1591909421
NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys) rs1942462618
NM_006940.6(SOX5):c.1789A>G (p.Met597Val) rs1940534444
NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg) rs1341736288
NM_006940.6(SOX5):c.1864G>A (p.Asp622Asn)
NM_006940.6(SOX5):c.616A>G (p.Ile206Val) rs2093775713
NM_016628.5(WAC):c.1280_1281del (p.Ser427fs) rs2132826154
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_022455.5(NSD1):c.2944G>T (p.Gly982Trp) rs587784091
NM_022455.5(NSD1):c.3796+1_3796+6del
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met) rs1759549616
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs) rs1759550773
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.5(NSD1):c.769C>T (p.Pro257Ser) rs1756280868
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_078480.3(PUF60):c.619_637del (p.Asn207fs) rs1554643142
NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser) rs1816558436

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