ClinVar Miner

List of variants studied for contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Included ClinVar conditions (5):
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.4957-16G>C rs2239936 0.78067
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477 0.69723
NM_002470.4(MYH3):c.1581+13A>C rs2285468 0.63294
NM_002470.4(MYH3):c.534-44T>C rs1989810 0.63169
NM_002470.4(MYH3):c.5457+9dup rs397750512 0.58793
NM_002470.4(MYH3):c.2151C>A (p.Gly717=) rs876657 0.58590
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) rs2285479 0.57510
NM_002470.4(MYH3):c.2532A>G (p.Ala844=) rs2285469 0.57316
NM_002470.4(MYH3):c.2166-15A>G rs876660 0.57314
NM_002470.4(MYH3):c.1141+32G>A rs2239934 0.57301
NM_002470.4(MYH3):c.2916A>G (p.Thr972=) rs2285472 0.57294
NM_002470.4(MYH3):c.2926-12A>G rs2285473 0.57289
NM_002470.4(MYH3):c.2952T>C (p.Ser984=) rs2285474 0.57288
NM_002470.4(MYH3):c.4956+32C>T rs4792008 0.57288
NM_002470.4(MYH3):c.1003-22C>T rs2239933 0.57286
NM_002470.4(MYH3):c.349-43C>T rs2285466 0.57166
NM_002470.4(MYH3):c.349-36A>G rs2285467 0.12931
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_002470.4(MYH3):c.118G>A (p.Val40Met) rs148637119 0.00010
NM_002470.4(MYH3):c.1581+1G>A rs1350968647 0.00001
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) rs121913623 0.00001
NM_002470.3(MYH3):c.[721A>G;724_725delTCinsTT]
NM_002470.4(MYH3):c.1156G>T (p.Ala386Ser)
NM_002470.4(MYH3):c.1411-391_1411-219del rs1567558314
NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter) rs1567564042
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs) rs771300756
NM_002470.4(MYH3):c.2682+30_2682+31del rs34274020
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup) rs878853126
NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro) rs796051884
NM_002470.4(MYH3):c.3227A>C (p.Gln1076Pro)
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) rs1567553806
NM_002470.4(MYH3):c.4111C>T (p.Gln1371Ter)
NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln) rs1567553702
NM_002470.4(MYH3):c.4647+1G>A rs1567552713
NM_002470.4(MYH3):c.5618A>C (p.Gln1873Pro) rs2142377128
NM_002470.4(MYH3):c.5796+30C>T rs12940161
NM_002470.4(MYH3):c.643-43dup rs3214114
NM_002470.4(MYH3):c.703A>G (p.Lys235Glu)
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del) rs1555527166
NM_002470.4(MYH3):c.730C>T (p.Arg244Cys)
NM_002470.4(MYH3):c.859T>G (p.Phe287Val) rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) rs1567559562

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