ClinVar Miner

List of variants in gene CTSC, LOC130006572 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001814.6(CTSC):c.-18T>C rs11019400 0.09158
NM_001814.6(CTSC):c.-45C>G rs181685520 0.00163
NM_001814.6(CTSC):c.-48G>A rs200415443 0.00033
NM_001814.6(CTSC):c.29C>T (p.Ala10Val) rs765499436 0.00010
NM_001814.6(CTSC):c.-49C>T rs779871521 0.00009
NM_001814.6(CTSC):c.90C>T (p.Cys30=) rs202160994 0.00003
NM_001814.6(CTSC):c.12G>A (p.Gly4=) rs755959403 0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val) rs886048742 0.00001
NM_001814.6(CTSC):c.81T>G (p.Pro27=) rs1370319468 0.00001
NM_001814.6(CTSC):c.-23C>G rs886048743
NM_001814.6(CTSC):c.-55C>A
NM_001814.6(CTSC):c.-55C>T
NM_001814.6(CTSC):c.-7C>A rs770352776
NM_001814.6(CTSC):c.111C>T (p.Gly37=)
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.124del (p.Gln42fs)
NM_001814.6(CTSC):c.127G>T (p.Val43Leu)
NM_001814.6(CTSC):c.134C>T (p.Ser45Phe)
NM_001814.6(CTSC):c.138C>T (p.Ser46=)
NM_001814.6(CTSC):c.140G>T (p.Gly47Val)
NM_001814.6(CTSC):c.144C>G (p.Ser48=)
NM_001814.6(CTSC):c.147G>A (p.Gln49=)
NM_001814.6(CTSC):c.15C>T (p.Pro5=)
NM_001814.6(CTSC):c.162C>T (p.Cys54=)
NM_001814.6(CTSC):c.165G>A (p.Ser55=)
NM_001814.6(CTSC):c.168T>G (p.Val56=)
NM_001814.6(CTSC):c.16T>G (p.Ser6Ala)
NM_001814.6(CTSC):c.172+10C>T
NM_001814.6(CTSC):c.172+13C>T
NM_001814.6(CTSC):c.172+15C>T
NM_001814.6(CTSC):c.172+19A>C
NM_001814.6(CTSC):c.172+8G>T
NM_001814.6(CTSC):c.18C>T (p.Ser6=)
NM_001814.6(CTSC):c.21G>A (p.Leu7=)
NM_001814.6(CTSC):c.21G>C (p.Leu7Phe)
NM_001814.6(CTSC):c.21G>T (p.Leu7Phe)
NM_001814.6(CTSC):c.21del (p.Leu7fs)
NM_001814.6(CTSC):c.22C>T (p.Leu8=)
NM_001814.6(CTSC):c.27C>T (p.Leu9=)
NM_001814.6(CTSC):c.37C>A (p.Leu13Met)
NM_001814.6(CTSC):c.40C>T (p.Leu14=)
NM_001814.6(CTSC):c.42G>C (p.Leu14=)
NM_001814.6(CTSC):c.43C>T (p.Leu15Phe)
NM_001814.6(CTSC):c.48C>T (p.Leu16=)
NM_001814.6(CTSC):c.4G>C (p.Gly2Arg)
NM_001814.6(CTSC):c.51C>T (p.Ser17=)
NM_001814.6(CTSC):c.53G>A (p.Gly18Asp)
NM_001814.6(CTSC):c.60C>T (p.Gly20=)
NM_001814.6(CTSC):c.63C>G (p.Ala21=)
NM_001814.6(CTSC):c.63C>T (p.Ala21=)
NM_001814.6(CTSC):c.71G>A (p.Cys24Tyr)
NM_001814.6(CTSC):c.84C>G (p.Ala28=)
NM_001814.6(CTSC):c.87C>T (p.Asn29=)
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)
NM_001814.6(CTSC):c.94T>C (p.Tyr32His)
NM_001814.6(CTSC):c.95A>G (p.Tyr32Cys)
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)

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