ClinVar Miner

List of variants in gene PTCH1 reported as likely benign for Holoprosencephaly sequence

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Total variants: 7
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HGVS dbSNP
NM_000264.5(PTCH1):c.*1866_*1867TG[10] rs59205702
NM_000264.5(PTCH1):c.*1893_*1894GT[4] rs531572088
NM_000264.5(PTCH1):c.*2988_*2991TTGT[1] rs139748418
NM_000264.5(PTCH1):c.*748_*749insACTT rs147342582
NM_000264.5(PTCH1):c.*748_*749insATTT rs1554687587
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275

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