ClinVar Miner

List of variants studied for basal cell carcinoma, susceptibility to, 1 by Baylor Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.3269C>T (p.Ala1090Val) rs202184038 0.00016
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His) rs771238114 0.00005
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val) rs376844749 0.00004
NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile) rs938997251 0.00003
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro) rs372422922 0.00003
NM_000264.5(PTCH1):c.899C>T (p.Ala300Val) rs1421967825 0.00003
NM_003738.5(PTCH2):c.2692C>T (p.Arg898Cys) rs759692145 0.00003
NM_000264.5(PTCH1):c.1855G>A (p.Val619Ile) rs1060502266 0.00002
NM_000264.5(PTCH1):c.4129G>A (p.Val1377Met) rs745337014 0.00002
NM_000264.5(PTCH1):c.67G>A (p.Ala23Thr) rs863224654 0.00002
NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln) rs751579508 0.00002
NM_000264.5(PTCH1):c.1025T>C (p.Ile342Thr) rs1841403085 0.00001
NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg) rs1476325987 0.00001
NM_000264.5(PTCH1):c.14G>C (p.Gly5Ala) rs864622762 0.00001
NM_000264.5(PTCH1):c.1892C>T (p.Thr631Ile) rs727504112 0.00001
NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met) rs746898855 0.00001
NM_000264.5(PTCH1):c.2172G>C (p.Glu724Asp) rs747274181 0.00001
NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu) rs923429610 0.00001
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) rs754623561 0.00001
NM_000264.5(PTCH1):c.322A>G (p.Ile108Val) rs1338490449 0.00001
NM_000264.5(PTCH1):c.3295C>G (p.His1099Asp) rs1426410745 0.00001
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala) rs1060502284 0.00001
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met) rs769691754 0.00001
NM_000264.5(PTCH1):c.3331A>G (p.Lys1111Glu) rs1838665681 0.00001
NM_000264.5(PTCH1):c.3449+10C>T rs371546179 0.00001
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys) rs571420165 0.00001
NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn) rs747181820 0.00001
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu) rs375857496 0.00001
NM_000264.5(PTCH1):c.3748C>T (p.Pro1250Ser) rs1060502265 0.00001
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val) rs777096311 0.00001
NM_000264.5(PTCH1):c.4063A>G (p.Thr1355Ala) rs864622456 0.00001
NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg) rs375626922 0.00001
NM_000264.5(PTCH1):c.4195C>T (p.Pro1399Ser) rs1275384199 0.00001
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp) rs587780707 0.00001
NM_000264.5(PTCH1):c.878A>G (p.Asp293Gly) rs768095469 0.00001
NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg) rs1487227339 0.00001
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys) rs1841320331
NM_000264.5(PTCH1):c.121C>A (p.Arg41Ser) rs1554709496
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del) rs1489690325
NM_000264.5(PTCH1):c.1242C>G (p.Asn414Lys)
NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu) rs759493890
NM_000264.5(PTCH1):c.133C>G (p.Pro45Ala)
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val) rs537871675
NM_000264.5(PTCH1):c.1417G>C (p.Gly473Arg)
NM_000264.5(PTCH1):c.148C>G (p.Leu50Val)
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val) rs1554698288
NM_000264.5(PTCH1):c.155G>C (p.Arg52Pro) rs777207639
NM_000264.5(PTCH1):c.1571A>C (p.Glu524Ala) rs2118281472
NM_000264.5(PTCH1):c.157C>T (p.Pro53Ser)
NM_000264.5(PTCH1):c.1972A>G (p.Met658Val) rs1448553293
NM_000264.5(PTCH1):c.2068G>T (p.Val690Phe)
NM_000264.5(PTCH1):c.2102G>A (p.Ser701Asn)
NM_000264.5(PTCH1):c.2105C>T (p.Pro702Leu) rs368362152
NM_000264.5(PTCH1):c.2120C>G (p.Ser707Cys) rs1840288367
NM_000264.5(PTCH1):c.2180G>A (p.Cys727Tyr)
NM_000264.5(PTCH1):c.2285G>A (p.Gly762Glu) rs1840110120
NM_000264.5(PTCH1):c.2333C>A (p.Thr778Lys)
NM_000264.5(PTCH1):c.2470A>G (p.Arg824Gly)
NM_000264.5(PTCH1):c.2672G>C (p.Gly891Ala)
NM_000264.5(PTCH1):c.280A>G (p.Ile94Val) rs1843660253
NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln) rs767225445
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val) rs1003711941
NM_000264.5(PTCH1):c.308T>C (p.Val103Ala)
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg) rs1838926237
NM_000264.5(PTCH1):c.3268G>A (p.Val1090Ile)
NM_000264.5(PTCH1):c.3278G>A (p.Gly1093Glu)
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met) rs201605273
NM_000264.5(PTCH1):c.3355C>G (p.Leu1119Val)
NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr) rs878853856
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val) rs1838656000
NM_000264.5(PTCH1):c.3443T>A (p.Ile1148Asn)
NM_000264.5(PTCH1):c.3463G>A (p.Val1155Met) rs1588519562
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys) rs767535853
NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys) rs1588517764
NM_000264.5(PTCH1):c.3712C>T (p.Leu1238Phe)
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
NM_000264.5(PTCH1):c.3805G>A (p.Val1269Met) rs1838059096
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)
NM_000264.5(PTCH1):c.3901C>T (p.Gln1301Ter)
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs) rs761353734
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser) rs762725821
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp) rs1218728112
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys) rs1412873206
NM_000264.5(PTCH1):c.4077C>A (p.Ser1359Arg)
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val) rs777641179
NM_000264.5(PTCH1):c.4160CTGGGC[3] (p.1387PG[3]) rs1060502272
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu) rs772802013
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter) rs2136570815
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser) rs972576439
NM_000264.5(PTCH1):c.4341C>A (p.Asn1447Lys)
NM_000264.5(PTCH1):c.52_57del (p.Ser18_Gly19del)
NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
NM_000264.5(PTCH1):c.659T>C (p.Ile220Thr)
NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg) rs1554700016
NM_000264.5(PTCH1):c.76C>T (p.Arg26Trp) rs1408427240
NM_000264.5(PTCH1):c.85G>A (p.Gly29Arg) rs2118909022
NM_000264.5(PTCH1):c.899C>A (p.Ala300Asp)
NM_003738.5(PTCH2):c.3238C>G (p.His1080Asp)

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