ClinVar Miner

List of variants in gene PTCH1 reported as uncertain significance for Holoprosencephaly 7

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Gene type:
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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.*2276A>T rs868749157 0.00625
NM_000264.5(PTCH1):c.*1132G>A rs572803728 0.00083
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_000264.5(PTCH1):c.*1896T>C rs949498288 0.00064
NM_000264.5(PTCH1):c.*450A>C rs192994934 0.00041
NM_000264.5(PTCH1):c.*3337T>C rs551093780 0.00032
NM_000264.5(PTCH1):c.*478A>G rs937053306 0.00031
NM_000264.5(PTCH1):c.2887+10G>A rs202081420 0.00031
NM_000264.5(PTCH1):c.*168C>A rs769353632 0.00024
NM_000264.5(PTCH1):c.*3138T>C rs548583404 0.00023
NM_000264.5(PTCH1):c.*750G>A rs777077097 0.00017
NM_000264.5(PTCH1):c.*3272C>T rs963000528 0.00016
NM_000264.5(PTCH1):c.*1358G>A rs756098510 0.00014
NM_000264.5(PTCH1):c.*2425A>C rs932959120 0.00014
NM_000264.5(PTCH1):c.*859C>T rs775198573 0.00012
NM_000264.5(PTCH1):c.*2644A>C rs773680534 0.00010
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) rs144182921 0.00010
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952 0.00010
NM_000264.5(PTCH1):c.*2795G>T rs773035324 0.00009
NM_000264.5(PTCH1):c.*2737C>A rs1038475537 0.00008
NM_000264.5(PTCH1):c.*762G>C rs763571205 0.00008
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275 0.00008
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00008
NM_000264.5(PTCH1):c.*1648A>G rs1057515713 0.00007
NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu) rs370755364 0.00007
NM_000264.5(PTCH1):c.*623C>T rs776158552 0.00006
NM_000264.5(PTCH1):c.3449+11G>A rs568528640 0.00006
NM_000264.5(PTCH1):c.4134T>C (p.Thr1378=) rs775499386 0.00006
NM_000264.5(PTCH1):c.*1153C>G rs770443972 0.00004
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser) rs181192122 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000264.5(PTCH1):c.*2180C>T rs1357696436 0.00003
NM_000264.5(PTCH1):c.*3111G>A rs1395471972 0.00003
NM_000264.5(PTCH1):c.*556G>A rs964764151 0.00003
NM_000264.5(PTCH1):c.*1167A>G rs192352160 0.00002
NM_000264.5(PTCH1):c.*1220A>G rs930382710 0.00002
NM_000264.5(PTCH1):c.*1885G>A rs892705165 0.00002
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn) rs779294007 0.00002
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys) rs144323077 0.00002
NM_000264.5(PTCH1):c.1215+14C>T rs367857273 0.00002
NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys) rs151310492 0.00002
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=) rs755755175 0.00002
NM_000264.5(PTCH1):c.4322C>T (p.Pro1441Leu) rs775192032 0.00002
NM_000264.5(PTCH1):c.*1556T>G rs572321616 0.00001
NM_000264.5(PTCH1):c.*1904T>C rs992648722 0.00001
NM_000264.5(PTCH1):c.*2096G>A rs1331556943 0.00001
NM_000264.5(PTCH1):c.*3080G>T rs1006981555 0.00001
NM_000264.5(PTCH1):c.*3209T>C rs757611119 0.00001
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=) rs766039170 0.00001
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln) rs377566861 0.00001
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=) rs756638660 0.00001
NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=) rs761887390 0.00001
NM_000264.5(PTCH1):c.777C>T (p.Phe259=) rs750313305 0.00001
NM_000264.5(PTCH1):c.*1075A>C rs1020973772
NM_000264.5(PTCH1):c.*1256C>T rs187832324
NM_000264.5(PTCH1):c.*1353T>C rs1837774312
NM_000264.5(PTCH1):c.*1413C>G rs1057515714
NM_000264.5(PTCH1):c.*1638A>G rs1039220329
NM_000264.5(PTCH1):c.*1757C>T rs1837735115
NM_000264.5(PTCH1):c.*186T>G rs977327674
NM_000264.5(PTCH1):c.*2146A>G rs538345753
NM_000264.5(PTCH1):c.*2263T>A rs1837680803
NM_000264.5(PTCH1):c.*2414C>G rs776036229
NM_000264.5(PTCH1):c.*3213T>C rs992312438
NM_000264.5(PTCH1):c.*592C>T rs890920802
NM_000264.5(PTCH1):c.*62C>T rs1837877053
NM_000264.5(PTCH1):c.*903G>A rs188320042
NM_000264.5(PTCH1):c.*943T>C rs538912814
NM_000264.5(PTCH1):c.1476A>G (p.Gly492=) rs1057515720
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala) rs1057515719
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu) rs1263611523
NM_000264.5(PTCH1):c.2561-3T>C rs2136690024
NM_000264.5(PTCH1):c.2703+12G>A rs1295275193
NM_000264.5(PTCH1):c.2750G>T (p.Ser917Ile) rs1588544954
NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=) rs758229027
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu) rs1368334005
NM_001083603.3(PTCH1):c.74del (p.Pro25fs) rs1350435311

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