ClinVar Miner

List of variants studied for basal cell nevus syndrome 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu) rs370755364 0.00007
NM_000264.5(PTCH1):c.146A>G (p.Tyr49Cys) rs774156512 0.00006
NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile) rs878853850 0.00002
NM_000264.5(PTCH1):c.3631C>T (p.Pro1211Ser) rs139495263 0.00002
NM_000264.5(PTCH1):c.4081G>A (p.Val1361Met) rs753535745 0.00002
NM_000264.5(PTCH1):c.67G>A (p.Ala23Thr) rs863224654 0.00002
NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu) rs863224648 0.00001
NM_000264.5(PTCH1):c.1246A>G (p.Thr416Ala) rs952195482 0.00001
NM_000264.5(PTCH1):c.150G>T (p.Leu50=) rs1172557603 0.00001
NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg) rs963297092 0.00001
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg) rs1564008885 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000264.5(PTCH1):c.4055C>G (p.Pro1352Arg) rs1022984391 0.00001
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys) rs139535966 0.00001
NM_000264.5(PTCH1):c.113G>C (p.Gly38Ala) rs143494325
NM_000264.5(PTCH1):c.1205C>T (p.Thr402Ile)
NM_000264.5(PTCH1):c.139C>G (p.Arg47Gly) rs138729094
NM_000264.5(PTCH1):c.1602+1G>T rs1060502277
NM_000264.5(PTCH1):c.1660A>T (p.Ser554Cys) rs1060502282
NM_000264.5(PTCH1):c.16A>G (p.Asn6Asp) rs1587701202
NM_000264.5(PTCH1):c.2540A>G (p.Tyr847Cys) rs1352235060
NM_000264.5(PTCH1):c.2704-1G>T
NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)
NM_000264.5(PTCH1):c.2930A>G (p.Tyr977Cys)
NM_000264.5(PTCH1):c.3250G>T (p.Val1084Phe) rs1838922991
NM_000264.5(PTCH1):c.3355C>G (p.Leu1119Val)
NM_000264.5(PTCH1):c.3564C>A (p.Asn1188Lys) rs864622621
NM_000264.5(PTCH1):c.366G>C (p.Glu122Asp) rs1479871006
NM_000264.5(PTCH1):c.3857C>A (p.Pro1286His) rs1278213544
NM_000264.5(PTCH1):c.3920C>T (p.Pro1307Leu) rs181585555
NM_000264.5(PTCH1):c.3923G>A (p.Arg1308Lys)
NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del) rs774819810
NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu) rs757909121
NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
NM_001083603.3(PTCH1):c.119GAG[3] (p.Gly43del)
NM_001083603.3(PTCH1):c.128G>A (p.Gly43Glu)
NM_001083603.3(PTCH1):c.143A>G (p.Glu48Gly)
NM_001083603.3(PTCH1):c.159_167dup (p.Asp55_Asp56insGluLysAsp)
NM_001083603.3(PTCH1):c.198+157G>A

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