ClinVar Miner

List of variants studied for clubfoot

Included ClinVar conditions (19):
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_002653.5(PITX1):c.896G>C (p.Gly299Ala) rs479632 0.24653
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) rs142594314 0.00128
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361 0.00057
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter) rs777064285 0.00012
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg) rs760873748 0.00003
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_001384125.1(BLTP1):c.3323+1G>A rs775292946 0.00001
NM_002653.5(PITX1):c.158C>T (p.Thr53Met) rs777634577 0.00001
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val) rs778360818 0.00001
46;X;idic(Y)(q11);t(2;6;12;3)(q24;q23;q12;p13)[21]/46;XY;t(2;6;12;3)dn
46;XY;t(2;10)(p25;q26)dn
NM_000093.5(COL5A1):c.2903del (p.Pro968fs) rs1057518871
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys) rs772470710
NM_001366521.1(ATP2B1):c.2938G>T (p.Val980Leu) rs370810713
NM_001366521.1(ATP2B1):c.3060+2T>G rs2135942244
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter) rs730882245
NM_001384125.1(BLTP1):c.692del (p.Phe231fs) rs1741122462
NM_001605.3(AARS1):c.2054T>C (p.Val685Ala) rs1555539904
NM_002653.5(PITX1):c.292del (p.Ser98fs)
NM_002653.5(PITX1):c.388G>A (p.Glu130Lys) rs121909109
NM_002653.5(PITX1):c.414G>T (p.Lys138Asn) rs1752408604
NM_002653.5(PITX1):c.551G>C (p.Trp184Ser)
NM_002653.5(PITX1):c.683G>T (p.Ser228Ile) rs1752403312
NM_002653.5(PITX1):c.765_799del (p.Ala256fs) rs730882191
NM_002653.5(PITX1):c.793G>A (p.Gly265Ser) rs141612135
NM_002653.5(PITX1):c.87del (p.Ala30fs) rs2149562896
NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) rs1554846212
NM_015045.5(WAPL):c.2020C>T (p.Arg674Cys)
NM_018122.5(DARS2):c.228-21_228-20delinsC rs1553201258
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter) rs780770356

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