ClinVar Miner

List of variants in gene C2CD4D

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001394591.1(C2CD4D):c.829G>A (p.Val277Met) rs574774029 0.00025
NM_001394591.1(C2CD4D):c.122A>G (p.Asn41Ser) rs766601318 0.00007
NM_001394591.1(C2CD4D):c.1055G>T (p.Ser352Ile) rs375839900 0.00004
NM_001394591.1(C2CD4D):c.968G>C (p.Gly323Ala) rs774790182 0.00004
NM_001394591.1(C2CD4D):c.136G>A (p.Asp46Asn) rs1052103219 0.00003
NM_001394591.1(C2CD4D):c.649C>T (p.Arg217Cys) rs1374859189 0.00003
NM_001394591.1(C2CD4D):c.733C>T (p.Pro245Ser) rs1322632175 0.00001
NM_001394591.1(C2CD4D):c.856T>G (p.Phe286Val) rs1044880314 0.00001
NM_001394591.1(C2CD4D):c.1000C>T (p.Pro334Ser)
NM_001394591.1(C2CD4D):c.1034C>A (p.Ser345Tyr) rs1652624028
NM_001394591.1(C2CD4D):c.1054A>G (p.Ser352Gly)
NM_001394591.1(C2CD4D):c.112G>C (p.Ala38Pro)
NM_001394591.1(C2CD4D):c.146C>G (p.Pro49Arg)
NM_001394591.1(C2CD4D):c.166C>T (p.Arg56Trp)
NM_001394591.1(C2CD4D):c.172C>T (p.Pro58Ser) rs2526092164
NM_001394591.1(C2CD4D):c.184G>A (p.Gly62Ser)
NM_001394591.1(C2CD4D):c.188C>A (p.Ala63Glu)
NM_001394591.1(C2CD4D):c.329C>T (p.Pro110Leu) rs755938162
NM_001394591.1(C2CD4D):c.346G>A (p.Gly116Arg) rs537061891
NM_001394591.1(C2CD4D):c.350G>A (p.Gly117Glu) rs1407577580
NM_001394591.1(C2CD4D):c.350G>T (p.Gly117Val)
NM_001394591.1(C2CD4D):c.751C>G (p.Pro251Ala)
NM_001394591.1(C2CD4D):c.85C>T (p.Arg29Cys) rs1234273490
NM_001394591.1(C2CD4D):c.860A>G (p.Asn287Ser)
NM_001394591.1(C2CD4D):c.902C>G (p.Ala301Gly) rs1197713911
NM_001394591.1(C2CD4D):c.91G>T (p.Ala31Ser) rs1370232510

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