ClinVar Miner

List of variants in gene LOC130055403, TINF2 studied for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758 0.00166
NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr) rs35653076 0.00014
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995 0.00006
NM_001099274.3(TINF2):c.159C>T (p.His53=) rs370875792 0.00003
NM_001099274.3(TINF2):c.128C>A (p.Ala43Asp) rs771709910 0.00001
NM_001099274.3(TINF2):c.129T>C (p.Ala43=) rs1488023738 0.00001
NM_001099274.3(TINF2):c.141C>T (p.Gly47=) rs1351749746 0.00001
NM_001099274.3(TINF2):c.144_145insTT (p.Val49fs) rs1334044756 0.00001
NM_001099274.3(TINF2):c.166C>G (p.Arg56Gly) rs753814680 0.00001
NM_001099274.3(TINF2):c.167G>A (p.Arg56His) rs777925529 0.00001
NM_001099274.3(TINF2):c.69G>A (p.Val23=) rs1280950659 0.00001
NM_001099274.3(TINF2):c.73G>C (p.Gly25Arg) rs766671951 0.00001
NM_001099274.3(TINF2):c.104T>C (p.Leu35Pro) rs1440307893
NM_001099274.3(TINF2):c.106G>A (p.Glu36Lys)
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly) rs1367518236
NM_001099274.3(TINF2):c.118T>C (p.Ser40Pro)
NM_001099274.3(TINF2):c.120T>C (p.Ser40=)
NM_001099274.3(TINF2):c.126C>T (p.Arg42=)
NM_001099274.3(TINF2):c.131T>A (p.Val44Asp) rs1282299077
NM_001099274.3(TINF2):c.131T>C (p.Val44Ala)
NM_001099274.3(TINF2):c.138T>C (p.Pro46=)
NM_001099274.3(TINF2):c.138del (p.Gly47fs)
NM_001099274.3(TINF2):c.144G>C (p.Leu48Phe) rs2139003740
NM_001099274.3(TINF2):c.146T>C (p.Val49Ala) rs1594555802
NM_001099274.3(TINF2):c.163G>A (p.Glu55Lys) rs757133062
NM_001099274.3(TINF2):c.169del (p.Leu57fs)
NM_001099274.3(TINF2):c.176T>C (p.Met59Thr) rs376204748
NM_001099274.3(TINF2):c.192+13G>A rs1566369386
NM_001099274.3(TINF2):c.192+9G>A
NM_001099274.3(TINF2):c.63G>A (p.Gln21=)
NM_001099274.3(TINF2):c.64G>A (p.Val22Ile)
NM_001099274.3(TINF2):c.70C>T (p.Arg24Cys) rs2139004072
NM_001099274.3(TINF2):c.73G>A (p.Gly25Arg)
NM_001099274.3(TINF2):c.79T>C (p.Cys27Arg) rs2040597244
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001099274.3(TINF2):c.82G>C (p.Val28Leu)
NM_001099274.3(TINF2):c.93T>G (p.Phe31Leu)
NM_001099274.3(TINF2):c.95C>T (p.Pro32Leu)
NM_001099274.3(TINF2):c.98G>A (p.Arg33Gln)

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