ClinVar Miner

List of variants in gene PTCH1 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.1068-1G>A rs1085307752
NM_000264.5(PTCH1):c.1086dup (p.Met363fs) rs1064793474
NM_000264.5(PTCH1):c.1119C>G (p.Tyr373Ter) rs2066831
NM_000264.5(PTCH1):c.1348-2A>G rs1064793978
NM_000264.5(PTCH1):c.1405_1423del (p.Val469fs) rs1554698587
NM_000264.5(PTCH1):c.1503+1G>C rs864622293
NM_000264.5(PTCH1):c.1585A>T (p.Lys529Ter) rs780434261
NM_000264.5(PTCH1):c.1615dup (p.Glu539fs) rs878853847
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter) rs781768965
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000264.5(PTCH1):c.2561-1G>A rs1131691700
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs) rs864622212
NM_000264.5(PTCH1):c.2626G>T (p.Gly876Ter) rs1131691758
NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter) rs1064796618
NM_000264.5(PTCH1):c.2712dup (p.Gln905fs) rs143091773
NM_000264.5(PTCH1):c.2713C>T (p.Gln905Ter) rs864622088
NM_000264.5(PTCH1):c.278dup (p.Tyr93Ter) rs1587693544
NM_000264.5(PTCH1):c.279C>A (p.Tyr93Ter)
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.2860_2869delinsTAGT (p.Asp954_Pro957delinsTer) rs1064793991
NM_000264.5(PTCH1):c.2887+5G>A rs2538077693
NM_000264.5(PTCH1):c.2899G>T (p.Glu967Ter) rs886041943
NM_000264.5(PTCH1):c.3042del (p.Phe1015fs) rs886039540
NM_000264.5(PTCH1):c.3044_3071del (p.Phe1015fs) rs886039678
NM_000264.5(PTCH1):c.3314dup (p.Thr1106fs) rs1554690484
NM_000264.5(PTCH1):c.379G>T (p.Glu127Ter) rs774822170
NM_000264.5(PTCH1):c.394+1G>A rs1131690995
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter) rs1131690986
NM_000264.5(PTCH1):c.451del (p.Ala151fs) rs2118547596
NM_000264.5(PTCH1):c.489_490insTA (p.Glu164Ter) rs1064796259
NM_000264.5(PTCH1):c.585-1G>C rs1057520590
NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter) rs1064793922
NM_000264.5(PTCH1):c.606del (p.Leu202fs) rs1064794117
NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter) rs1554700647
NM_000264.5(PTCH1):c.817_820delinsGAT (p.Tyr273fs) rs1554699969
NM_000264.5(PTCH1):c.822del (p.Val275fs) rs1554699964
NM_000264.5(PTCH1):c.833G>A (p.Trp278Ter) rs2118420890
NM_000264.5(PTCH1):c.955dup (p.Met319fs)

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