ClinVar Miner

List of variants in gene PTCH1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.*3341T>C rs138499623 0.00884
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_000264.5(PTCH1):c.*2276A>T rs868749157 0.00625
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135 0.00128
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_000264.5(PTCH1):c.*1132G>A rs572803728 0.00083
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=) rs56007343 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=) rs145196322 0.00065
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
NM_000264.5(PTCH1):c.*2175G>A rs188061818 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=) rs139123130 0.00048
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000264.5(PTCH1):c.1216-6C>A rs186008764 0.00027
NM_001083603.3(PTCH1):c.78G>C (p.Ala26=) rs200948177 0.00022
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967 0.00021
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532 0.00017
NM_000264.5(PTCH1):c.567T>C (p.His189=) rs150759973 0.00016
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) rs144182921 0.00010
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=) rs369295226 0.00009
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=) rs201357130 0.00008
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=) rs139071993 0.00007
NM_000264.5(PTCH1):c.882C>T (p.Arg294=) rs145893445 0.00007
NM_000264.5(PTCH1):c.4212T>C (p.Thr1404=) rs139086753 0.00006
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln) rs185570125 0.00004
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=) rs141016655 0.00003
NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser) rs559827048 0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 0.00003
NM_000264.5(PTCH1):c.4251C>T (p.His1417=) rs371960721 0.00003
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr) rs368528885 0.00002
NM_000264.5(PTCH1):c.2685G>A (p.Lys895=) rs1431878972 0.00001
NM_000264.5(PTCH1):c.3169-5T>C rs367654039 0.00001
NM_000264.5(PTCH1):c.3292G>A (p.Val1098Ile) rs748726158 0.00001
NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=) rs761887390 0.00001
NM_000264.5(PTCH1):c.526C>T (p.Leu176=) rs2066834 0.00001
NM_000264.5(PTCH1):c.907G>C (p.Asp303His) rs1172719429 0.00001
GRCh37/hg19 9q22.32(chr9:98209194-98279102)x1
NM_000264.5(PTCH1):c.*1866TG[7]
NM_000264.5(PTCH1):c.*1884CGTG[4]
NM_000264.5(PTCH1):c.1028_1029dup (p.Gly344fs)
NM_000264.5(PTCH1):c.1031del (p.Gly344fs) rs2118389988
NM_000264.5(PTCH1):c.1252_1253del (p.Lys418fs) rs2118337307
NM_000264.5(PTCH1):c.1347+1G>C rs1588602262
NM_000264.5(PTCH1):c.1435_1436del (p.Leu479fs)
NM_000264.5(PTCH1):c.260dup (p.Leu87fs) rs2118879524
NM_000264.5(PTCH1):c.2703+2T>A rs2136686524
NM_000264.5(PTCH1):c.2888-8C>T rs567994836
NM_000264.5(PTCH1):c.290dup (p.Asn97fs) rs1554708751
NM_000264.5(PTCH1):c.3204C>T (p.Phe1068=) rs762419846
NM_000264.5(PTCH1):c.3246C>A (p.Pro1082=)
NM_000264.5(PTCH1):c.3275T>A (p.Ile1092Lys) rs1588535471
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe) rs1588528503
NM_000264.5(PTCH1):c.3406G>C (p.Gly1136Arg) rs1838655420
NM_000264.5(PTCH1):c.3408A>G (p.Gly1136=) rs769601779
NM_000264.5(PTCH1):c.3601C>T (p.Pro1201Ser) rs1838233287
NM_000264.5(PTCH1):c.3633C>T (p.Pro1211=) rs56007343
NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg) rs769446796
NM_000264.5(PTCH1):c.3866A>T (p.Asp1289Val) rs1588512163
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.5(PTCH1):c.4116G>T (p.Thr1372=) rs776937004
NM_000264.5(PTCH1):c.4142T>C (p.Val1381Ala)
NM_000264.5(PTCH1):c.4191C>G (p.Leu1397=) rs754826635
NM_000264.5(PTCH1):c.488AAG[2] (p.Glu165del) rs1201611173
NM_000264.5(PTCH1):c.591G>T (p.Trp197Cys) rs1841597665
NM_000264.5(PTCH1):c.660A>G (p.Ile220Met) rs1564057952
NM_000264.5(PTCH1):c.875T>C (p.Met292Thr) rs748727674
NM_000264.5(PTCH1):c.999G>A (p.Lys333=)
NM_001083603.3(PTCH1):c.130GAA[6] (p.Glu48_Asn49insGlu) rs112914470
NM_001083603.3(PTCH1):c.149GAG[1] (p.Gly51del)

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