ClinVar Miner

List of variants studied for Fechtner syndrome

Included ClinVar conditions (3):
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Total variants: 30
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HGVS dbSNP
MYH9, 18-BP DEL, NT228
NM_002473.5(MYH9):c.136C>T (p.Leu46Phe) rs147122501
NM_002473.5(MYH9):c.1730T>C (p.Val577Ala)
NM_002473.5(MYH9):c.193G>A (p.Val65Met) rs377348805
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.5(MYH9):c.2105G>A (p.Arg702His) rs80338827
NM_002473.5(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.5(MYH9):c.2714G>A (p.Arg905His) rs727503289
NM_002473.5(MYH9):c.279C>G (p.Asn93Lys) rs121913655
NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.5(MYH9):c.2900T>A (p.Val967Glu) rs16996652
NM_002473.5(MYH9):c.3195_3215del (p.Gln1068_Leu1074del) rs876661302
NM_002473.5(MYH9):c.3195_3215dup (p.Gln1068_Leu1074dup) rs876661302
NM_002473.5(MYH9):c.3464C>T (p.Thr1155Ile) rs121913656
NM_002473.5(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.5(MYH9):c.3494G>T (p.Arg1165Leu) rs80338830
NM_002473.5(MYH9):c.4261G>A (p.Glu1421Lys) rs1569534914
NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.5(MYH9):c.4270G>C (p.Asp1424His) rs80338831
NM_002473.5(MYH9):c.4270G>T (p.Asp1424Tyr) rs80338831
NM_002473.5(MYH9):c.4340A>T (p.Asp1447Val) rs797044804
NM_002473.5(MYH9):c.4876A>G (p.Ile1626Val) rs2269529
NM_002473.5(MYH9):c.5081G>A (p.Arg1694His) rs538330756
NM_002473.5(MYH9):c.5275-7_5275-5del rs780656298
NM_002473.5(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234
NM_002473.5(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002473.5(MYH9):c.5563C>T (p.Arg1855Trp) rs1436597250
NM_002473.5(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002473.5(MYH9):c.5821del (p.Asp1941fs) rs587776808
NM_002473.5(MYH9):c.658G>A (p.Ala220Thr) rs1556637683

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