ClinVar Miner

List of variants reported as uncertain significance for BCC1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000264.4(PTCH1):c.1138G>A (p.Glu380Lys) rs772903899
NM_000264.4(PTCH1):c.181G>A (p.Ala61Thr) rs150069331
NM_000264.4(PTCH1):c.1989G>C (p.Gln663His) rs753002023
NM_000264.4(PTCH1):c.2287G>T (p.Val763Phe) rs544963328
NM_000264.4(PTCH1):c.2440A>C (p.Asn814His) rs754623561
NM_000264.4(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573
NM_000264.4(PTCH1):c.2671G>A (p.Gly891Ser) rs570091335
NM_000264.4(PTCH1):c.3575G>A (p.Arg1192His) rs762040036
NM_000264.4(PTCH1):c.3734A>G (p.Gln1245Arg) rs767792734
NM_000264.4(PTCH1):c.37C>G (p.Arg13Gly) rs779791579
NM_000264.4(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.4(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967
NM_000264.4(PTCH1):c.4024C>T (p.Arg1342Cys) rs781539921
NM_000264.4(PTCH1):c.4043A>G (p.Asn1348Ser) rs371943557
NM_000264.4(PTCH1):c.4049G>A (p.Arg1350Gln)
NM_000264.4(PTCH1):c.4051A>G (p.Asn1351Asp) rs786204103
NM_000264.4(PTCH1):c.412C>T (p.Arg138Cys) rs139535966
NM_000264.4(PTCH1):c.4138G>A (p.Ala1380Thr)
NM_000264.4(PTCH1):c.4162G>A (p.Gly1388Arg) rs587778631
NM_000264.4(PTCH1):c.901G>A (p.Asp301Asn) rs767601899
NM_000264.4(PTCH1):c.949C>T (p.Leu317Phe)
NM_003738.4(PTCH2):c.109C>T (p.Arg37Cys)
NM_003738.4(PTCH2):c.19C>G (p.Leu7Val) rs1030456781
NM_003738.4(PTCH2):c.3347C>T (p.Pro1116Leu) rs539161089
NM_003738.4(PTCH2):c.565C>G (p.Leu189Val) rs747885797

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