ClinVar Miner

List of variants reported as uncertain significance for autosomal anomaly by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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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 3q29(chr3:194790394-197961930)x3
NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys) rs2108958817
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.110T>C (p.Val37Ala) rs1799677960
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val) rs768570497
NM_002397.5(MEF2C):c.402+145A>G rs1777617806
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
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.381+4_381+7del rs1564400647
NM_022455.5(NSD1):c.2944G>T (p.Gly982Trp) rs587784091
NM_022455.5(NSD1):c.769C>T (p.Pro257Ser) rs1756280868

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