ClinVar Miner

List of variants studied for congenital deformities of limbs

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_002148.4(HOXD10):c.*495A>T rs13403839 0.30776
NM_002148.4(HOXD10):c.*55G>T rs61070787 0.03367
NM_002148.4(HOXD10):c.*585C>T rs72923454 0.01649
NM_002148.4(HOXD10):c.*47G>T rs114746583 0.01364
NM_002148.4(HOXD10):c.987G>C (p.Arg329=) rs33913965 0.01352
NM_002148.4(HOXD10):c.*2T>C rs116807022 0.00985
NM_002148.4(HOXD10):c.*235A>T rs76652386 0.00942
NM_002148.4(HOXD10):c.*279G>A rs150556295 0.00437
NM_002148.4(HOXD10):c.*468A>T rs532592274 0.00271
NM_002148.4(HOXD10):c.998T>C (p.Leu333Pro) rs144160937 0.00188
NM_002148.4(HOXD10):c.465T>C (p.Ser155=) rs141770128 0.00048
NM_002148.4(HOXD10):c.*233T>A rs867263804 0.00045
NM_002148.4(HOXD10):c.*278G>A rs565659273 0.00044
NM_002148.4(HOXD10):c.*270G>A rs779201977 0.00034
NM_002148.4(HOXD10):c.372T>G (p.Ile124Met) rs149038150 0.00024
NM_002148.4(HOXD10):c.*208A>G rs867143553 0.00008
NM_002148.4(HOXD10):c.581A>G (p.Gln194Arg) rs769981285 0.00006
NM_002148.4(HOXD10):c.266G>A (p.Arg89Gln) rs374700658 0.00005
NM_002148.4(HOXD10):c.420C>G (p.Pro140=) rs375702128 0.00005
NM_002148.4(HOXD10):c.623A>G (p.Gln208Arg) rs575171191 0.00003
NM_002148.4(HOXD10):c.-6C>G rs538359875 0.00001
NM_002148.4(HOXD10):c.561G>A (p.Lys187=) rs143870330 0.00001
46;XX;inv(18)(q11.2q23)dn
NM_002148.4(HOXD10):c.*205TA[13] rs6147035
NM_002148.4(HOXD10):c.*205TA[14] rs6147035
NM_002148.4(HOXD10):c.*205TA[17] rs6147035
NM_002148.4(HOXD10):c.*205TA[18] rs6147035
NM_002148.4(HOXD10):c.*205TA[21] rs6147035
NM_002148.4(HOXD10):c.*205TA[23] rs6147035
NM_002148.4(HOXD10):c.*21C>T rs570165195
NM_002148.4(HOXD10):c.*235delinsTATATATATAT rs886055161
NM_002148.4(HOXD10):c.*235delinsTATATATATATATATAT rs886055161
NM_002148.4(HOXD10):c.*34G>A rs1689824324
NM_002148.4(HOXD10):c.*643C>T rs552102680
NM_002148.4(HOXD10):c.*76G>C rs558709855
NM_002148.4(HOXD10):c.*83G>A rs1008365837
NM_002148.4(HOXD10):c.-10C>A rs781377305
NM_002148.4(HOXD10):c.116C>T (p.Pro39Leu) rs886055157
NM_002148.4(HOXD10):c.341G>T (p.Cys114Phe)
NM_002148.4(HOXD10):c.543C>A (p.Asn181Lys) rs886055158
NM_002148.4(HOXD10):c.684G>C (p.Glu228Asp) rs1378675941
NM_002148.4(HOXD10):c.753C>G (p.Ile251Met)
NM_002148.4(HOXD10):c.786T>A (p.Thr262=) rs755118732
NM_002148.4(HOXD10):c.87C>T (p.Ser29=) rs752887490
NM_002148.4(HOXD10):c.956T>A (p.Met319Lys) rs104893634

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