ClinVar Miner

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

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Gene type:
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Total variants: 51
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HGVS dbSNP
NM_000264.3(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275
NM_000264.4(PTCH1):c.*1066A>C rs185406054
NM_000264.4(PTCH1):c.*1373G>C rs16909865
NM_000264.4(PTCH1):c.*1535T>C rs112320257
NM_000264.4(PTCH1):c.*1545T>C rs113253600
NM_000264.4(PTCH1):c.*1616A>C rs73540181
NM_000264.4(PTCH1):c.*1702C>T rs115675849
NM_000264.4(PTCH1):c.*1708C>T rs146131736
NM_000264.4(PTCH1):c.*1709G>A rs73540175
NM_000264.4(PTCH1):c.*1882_*1883dup rs59205702
NM_000264.4(PTCH1):c.*1901_*1904delGTGT rs531572088
NM_000264.4(PTCH1):c.*1905C>G rs113213198
NM_000264.4(PTCH1):c.*2070C>G rs142942544
NM_000264.4(PTCH1):c.*2175G>A rs188061818
NM_000264.4(PTCH1):c.*231T>C rs28401363
NM_000264.4(PTCH1):c.*237G>C rs28688501
NM_000264.4(PTCH1):c.*2992_*2995delTTGT rs139748418
NM_000264.4(PTCH1):c.*3157G>A rs118174136
NM_000264.4(PTCH1):c.*3232G>T rs357565
NM_000264.4(PTCH1):c.*3341T>C rs138499623
NM_000264.4(PTCH1):c.*748_*749insACTT rs147342582
NM_000264.4(PTCH1):c.*748_*749insATTT rs1554687587
NM_000264.4(PTCH1):c.*780C>T rs75765727
NM_000264.4(PTCH1):c.*801C>T rs114243832
NM_000264.4(PTCH1):c.*851G>C rs73540186
NM_000264.4(PTCH1):c.1074T>C (p.His358=) rs2066832
NM_000264.4(PTCH1):c.109G>C (p.Gly37Arg) rs199976372
NM_000264.4(PTCH1):c.1119C>T (p.Tyr373=) rs2066831
NM_000264.4(PTCH1):c.1504-8T>C rs2277184
NM_000264.4(PTCH1):c.1602+15_1602+17delAAA rs528001004
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.2678G>A (p.Arg893His) rs138154222
NM_000264.4(PTCH1):c.2913T>C (p.Tyr971=) rs2229062
NM_000264.4(PTCH1):c.2937C>T (p.Asn979=) rs58629309
NM_000264.4(PTCH1):c.3141T>G (p.Leu1047=) rs2066835
NM_000264.4(PTCH1):c.318C>T (p.Leu106=) rs1805153
NM_000264.4(PTCH1):c.3387C>T (p.Gly1129=) rs28446339
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.3606C>T (p.Pro1202=) rs138240178
NM_000264.4(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135
NM_000264.4(PTCH1):c.3805-9C>T rs2236404
NM_000264.4(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968
NM_000264.4(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979
NM_000264.4(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.4(PTCH1):c.4128C>T (p.Ser1376=) rs142148876
NM_000264.4(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326
NM_000264.4(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271
NM_000264.4(PTCH1):c.735A>G (p.Thr245=) rs1805154

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