ClinVar Miner

List of variants reported as uncertain significance for basal cell nevus syndrome 1 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.3269C>T (p.Ala1090Val) rs202184038 0.00016
NM_003738.5(PTCH2):c.2263G>A (p.Ala755Thr) rs200862802 0.00006
NM_003738.5(PTCH2):c.1759G>A (p.Gly587Arg) rs375844056 0.00004
NM_000264.5(PTCH1):c.107C>G (p.Thr36Arg) rs1449765833 0.00003
NM_003738.5(PTCH2):c.3548G>A (p.Trp1183Ter) rs56024410 0.00002
NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg) rs963297092 0.00001
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg) rs587778628 0.00001
NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn) rs747181820 0.00001
NM_003738.5(PTCH2):c.2156G>A (p.Arg719Gln) rs121434397 0.00001
NM_000264.5(PTCH1):c.3839C>G (p.Ser1280Trp)
NM_000264.5(PTCH1):c.787G>A (p.Glu263Lys) rs1588610385
NM_001083603.3(PTCH1):c.166G>A (p.Asp56Asn)
NM_003738.5(PTCH2):c.1541T>C (p.Leu514Pro)
NM_003738.5(PTCH2):c.1669C>T (p.Arg557Cys)
NM_003738.5(PTCH2):c.2195G>C (p.Arg732Thr)
NM_003738.5(PTCH2):c.976C>T (p.Arg326Cys)
NM_016169.4(SUFU):c.1172A>G (p.His391Arg) rs2063696863

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