ClinVar Miner

List of variants in gene PTCH2 reported as likely benign for not provided

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.266-239A>G rs11573570 0.03486
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=) rs11573587 0.01447
NM_003738.5(PTCH2):c.687C>T (p.Ala229=) rs11573576 0.01288
NM_003738.5(PTCH2):c.90G>A (p.Leu30=) rs45573433 0.00945
NM_003738.5(PTCH2):c.3358-151C>G rs72883548 0.00753
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His) rs139624405 0.00701
NM_003738.5(PTCH2):c.1080G>T (p.Val360=) rs11573579 0.00649
NM_003738.5(PTCH2):c.814-289T>C rs140878257 0.00600
NM_003738.5(PTCH2):c.840T>C (p.Ser280=) rs147627670 0.00534
NM_003738.5(PTCH2):c.3115-212G>A rs11573594 0.00310
NM_003738.5(PTCH2):c.266-45C>T rs11573572 0.00287
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) rs11573598 0.00155
NM_003738.5(PTCH2):c.1425G>A (p.Ala475=) rs35851686 0.00152
NM_003738.5(PTCH2):c.1593G>A (p.Ala531=) rs11573585 0.00114
NM_003738.5(PTCH2):c.2013C>T (p.Phe671=) rs112563011 0.00108
NM_003738.5(PTCH2):c.1596C>T (p.Ala532=) rs140921885 0.00066
NM_003738.5(PTCH2):c.2679G>A (p.Thr893=) rs113617379 0.00046
NM_003738.5(PTCH2):c.2184C>T (p.Ser728=) rs146379791 0.00035
NM_003738.5(PTCH2):c.3189C>T (p.Thr1063=) rs143986029 0.00035
NM_003738.5(PTCH2):c.2559C>T (p.Pro853=) rs148265788 0.00026
NM_003738.5(PTCH2):c.2661C>T (p.His887=) rs149815763 0.00016
NM_003738.5(PTCH2):c.3183C>T (p.Pro1061=) rs201010330 0.00013
NM_003738.5(PTCH2):c.3471T>C (p.Thr1157=) rs1190099495 0.00003
NM_003738.5(PTCH2):c.1476C>A (p.Gly492=) rs569864866 0.00002
NM_001166292.2(PTCH2):c.3425+728T>C
NM_003738.5(PTCH2):c.-13C>G rs148219007
NM_003738.5(PTCH2):c.-222G>A rs11573537
NM_003738.5(PTCH2):c.1254C>T (p.Cys418=)
NM_003738.5(PTCH2):c.1506C>G (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1506C>T (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1590+10C>T rs1277004089
NM_003738.5(PTCH2):c.1590+34G>A rs11573583
NM_003738.5(PTCH2):c.1614C>T (p.Thr538=)
NM_003738.5(PTCH2):c.1713C>G (p.Pro571=) rs1573646751
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn) rs11573586
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr) rs11573586
NM_003738.5(PTCH2):c.2206C>T (p.Leu736=)
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=) rs111471526
NM_003738.5(PTCH2):c.3153C>T (p.Ala1051=)
NM_003738.5(PTCH2):c.3358-140C>T rs11573597
NM_003738.5(PTCH2):c.354C>G (p.Thr118=) rs758146648
NM_003738.5(PTCH2):c.387C>G (p.Pro129=)
NM_003738.5(PTCH2):c.435C>T (p.Val145=)
NM_003738.5(PTCH2):c.456-37T>G rs2295999
NM_003738.5(PTCH2):c.813+264T>G rs188791161

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