ClinVar Miner

List of variants in gene PTCH1 reported by PreventionGenetics

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000264.3(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.4(PTCH1):c.-12_-4delGGCGGCGGC rs71366293
NM_000264.4(PTCH1):c.-9_-4delGGCGGC rs71366293
NM_000264.4(PTCH1):c.-9_-4dup rs71366293
NM_000264.4(PTCH1):c.1074T>C (p.His358=) rs2066832
NM_000264.4(PTCH1):c.1119C>T (p.Tyr373=) rs2066831
NM_000264.4(PTCH1):c.1504-8T>C rs2277184
NM_000264.4(PTCH1):c.1641C>T (p.Ser547=) rs2066830
NM_000264.4(PTCH1):c.1665T>C (p.Asn555=) rs1805155
NM_000264.4(PTCH1):c.1686C>T (p.Ala562=) rs2066836
NM_000264.4(PTCH1):c.1710G>T (p.Leu570=) rs374924167
NM_000264.4(PTCH1):c.1728+16T>A rs758961945
NM_000264.4(PTCH1):c.202-19C>T rs886038275
NM_000264.4(PTCH1):c.2887+21A>G rs2236406
NM_000264.4(PTCH1):c.2892G>A (p.Pro964=) rs377213209
NM_000264.4(PTCH1):c.3117A>G (p.Thr1039=) rs775579178
NM_000264.4(PTCH1):c.3141T>G (p.Leu1047=) rs2066835
NM_000264.4(PTCH1):c.3168+34A>G rs751374954
NM_000264.4(PTCH1):c.318C>T (p.Leu106=) rs1805153
NM_000264.4(PTCH1):c.3372A>T (p.Ala1124=) rs756638660
NM_000264.4(PTCH1):c.3387C>T (p.Gly1129=) rs28446339
NM_000264.4(PTCH1):c.3435C>T (p.Phe1145=) rs200435277
NM_000264.4(PTCH1):c.3450-15C>T rs755474627
NM_000264.4(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584
NM_000264.4(PTCH1):c.3567C>T (p.Gly1189=) rs62637630
NM_000264.4(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000264.4(PTCH1):c.3804+32T>C rs199982439
NM_000264.4(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968
NM_000264.4(PTCH1):c.394+24C>T rs561263076
NM_000264.4(PTCH1):c.394+37C>G rs543169448
NM_000264.4(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.4(PTCH1):c.567T>C (p.His189=) rs150759973
NM_000264.4(PTCH1):c.585-34G>C rs377379088
NM_000264.4(PTCH1):c.735A>G (p.Thr245=) rs1805154
NM_000264.4(PTCH1):c.882C>T (p.Arg294=) rs145893445

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