ClinVar Miner

List of variants studied for basal cell carcinoma, susceptibility to by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys) rs758520331 0.00001
NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter) rs1840094606
NM_000264.5(PTCH1):c.37C>T (p.Arg13Cys) rs779791579
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu) rs1368334005
NM_000264.5(PTCH1):c.68C>A (p.Ala23Asp) rs761204245
NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter) rs1564055259
NM_001083603.3(PTCH1):c.2T>C (p.Met1Thr) rs1039069537
NM_002890.3(RASA1):c.2925+1G>A rs1762099168
NM_003738.5(PTCH2):c.3185T>G (p.Val1062Gly) rs1652996959

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