ClinVar Miner

List of variants in gene TRPM4 studied for Inborn genetic diseases

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_017636.4(TRPM4):c.1894C>T (p.Arg632Cys) rs1287233315 0.00002
NM_017636.4(TRPM4):c.1397C>T (p.Ala466Val) rs988311676 0.00001
NM_017636.4(TRPM4):c.217G>A (p.Asp73Asn) rs775526463 0.00001
NM_017636.4(TRPM4):c.2863C>T (p.Arg955Trp) rs1013171855 0.00001
NM_017636.4(TRPM4):c.434C>T (p.Ala145Val) rs767015629 0.00001
NM_017636.4(TRPM4):c.1097C>T (p.Ser366Phe)
NM_017636.4(TRPM4):c.1142T>C (p.Leu381Pro)
NM_017636.4(TRPM4):c.1683C>G (p.Asp561Glu)
NM_017636.4(TRPM4):c.1747T>G (p.Ser583Ala)
NM_017636.4(TRPM4):c.1748C>A (p.Ser583Tyr)
NM_017636.4(TRPM4):c.1963C>T (p.Leu655Phe)
NM_017636.4(TRPM4):c.206A>G (p.Glu69Gly) rs1555750883
NM_017636.4(TRPM4):c.2486T>G (p.Leu829Arg)
NM_017636.4(TRPM4):c.271C>T (p.Leu91Phe)
NM_017636.4(TRPM4):c.2908C>T (p.Pro970Ser) rs172152859
NM_017636.4(TRPM4):c.3002C>T (p.Ala1001Val)
NM_017636.4(TRPM4):c.3007C>G (p.Pro1003Ala)
NM_017636.4(TRPM4):c.3025G>C (p.Gly1009Arg)
NM_017636.4(TRPM4):c.30G>T (p.Trp10Cys)
NM_017636.4(TRPM4):c.3125T>G (p.Met1042Arg)
NM_017636.4(TRPM4):c.3393C>G (p.Asn1131Lys)
NM_017636.4(TRPM4):c.344C>T (p.Pro115Leu)
NM_017636.4(TRPM4):c.3496C>A (p.Arg1166Ser)
NM_017636.4(TRPM4):c.3550C>T (p.Arg1184Cys) rs779436318
NM_017636.4(TRPM4):c.401T>G (p.Leu134Arg)
NM_017636.4(TRPM4):c.512G>A (p.Arg171Gln)
NM_017636.4(TRPM4):c.554C>T (p.Ala185Val)
NM_017636.4(TRPM4):c.730G>C (p.Gly244Arg)
NM_017636.4(TRPM4):c.738G>C (p.Glu246Asp)
NM_017636.4(TRPM4):c.852G>A (p.Met284Ile)

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