ClinVar Miner

List of variants reported as not provided by Institute of Human Genetics, University of Wuerzburg

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_000257.4(MYH7):c.3727-15T>A
NM_000257.4(MYH7):c.3727-17T>A
NM_000257.4(MYH7):c.3727-21T>A
NM_001267550.2(TTN):c.100766-10del rs749872538
NM_001267550.2(TTN):c.100766-10dup rs749872538
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.35959+17C>G
NM_001267550.2(TTN):c.53736T>A (p.Val17912=)
NM_001267550.2(TTN):c.57847+19del rs111496283
NM_001267550.2(TTN):c.57847+7dup rs111496283
NM_001267550.2(TTN):c.89637T>A (p.Asn29879Lys)
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.5566-19C>T
NM_002471.4(MYH6):c.5566-1G>C
NM_002471.4(MYH6):c.5566-2A>C rs763818508
NM_002471.4(MYH6):c.5569G>C (p.Glu1857Gln)
NM_004415.4(DSP):c.2437-11del rs727502998
NM_007078.3(LDB3):c.1299T>C (p.Pro433=) rs761685061
NM_007078.3(LDB3):c.1300G>C (p.Ala434Pro) rs769720685
NM_007078.3(LDB3):c.1305T>C (p.Pro435=) rs1009984915
NM_007078.3(LDB3):c.1318T>C (p.Ser440Pro) rs868594949
NM_007078.3(LDB3):c.1324G>C (p.Ala442Pro)
NM_014000.3(VCL):c.1176+13A>T
NM_014000.3(VCL):c.1176+19A>T
NM_014000.3(VCL):c.140T>G (p.Val47Gly) rs2136218338
NM_014000.3(VCL):c.143A>C (p.Gln48Pro)
NM_014000.3(VCL):c.159C>A (p.Asn53Lys)
NM_014000.3(VCL):c.168+15C>G
NM_014000.3(VCL):c.168+4A>T
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.2238-17del rs4148670
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_020297.4(ABCC9):c.4512+689C>G
NM_020297.4(ABCC9):c.4512+695C>G
NM_020433.5(JPH2):c.1972G>C (p.Ala658Pro)
NM_032578.4(MYPN):c.2998G>C (p.Gly1000Arg)
NM_144573.4(NEXN):c.1424G>C (p.Arg475Thr)
NM_144573.4(NEXN):c.1426G>C (p.Ala476Pro)
NM_144573.4(NEXN):c.834G>C (p.Lys278Asn)

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