ClinVar Miner

List of variants studied for BCC1 by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1791G>C (p.Gln597His) rs753002023
NM_001083602.2(PTCH1):c.2089G>T (p.Val697Phe) rs544963328
NM_001083602.2(PTCH1):c.214C>T (p.Arg72Cys) rs139535966
NM_001083602.2(PTCH1):c.2242A>C (p.Asn748His) rs754623561
NM_001083602.2(PTCH1):c.2437G>A (p.Asp813Asn) rs750373573
NM_001083602.2(PTCH1):c.2473G>A (p.Gly825Ser) rs570091335
NM_001083602.2(PTCH1):c.3377G>A (p.Arg1126His) rs762040036
NM_001083602.2(PTCH1):c.3536A>G (p.Gln1179Arg) rs767792734
NM_001083602.2(PTCH1):c.3710G>T (p.Arg1237Leu) rs779365332
NM_001083602.2(PTCH1):c.3721C>T (p.Pro1241Ser) rs574880967
NM_001083602.2(PTCH1):c.3826C>T (p.Arg1276Cys) rs781539921
NM_001083602.2(PTCH1):c.3845A>G (p.Asn1282Ser) rs371943557
NM_001083602.2(PTCH1):c.3851G>A (p.Arg1284Gln)
NM_001083602.2(PTCH1):c.3853A>G (p.Asn1285Asp) rs786204103
NM_001083602.2(PTCH1):c.3940G>A (p.Ala1314Thr)
NM_001083602.2(PTCH1):c.3964G>A (p.Gly1322Arg) rs587778631
NM_001083602.2(PTCH1):c.4-1582G>A rs150069331
NM_001083602.2(PTCH1):c.4-1726C>G rs779791579
NM_001083602.2(PTCH1):c.703G>A (p.Asp235Asn) rs767601899
NM_001083602.2(PTCH1):c.751C>T (p.Leu251Phe) rs1380199153
NM_001083602.2(PTCH1):c.940G>A (p.Glu314Lys) rs772903899
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys)
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val) rs1030456781
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) rs539161089
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) rs747885797

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