ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F by Counsyl

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00020
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NC_000005.10:g.156326898G>T rs531296131 0.00013
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000337.6(SGCD):c.-59G>A rs375477247 0.00008
NM_000337.6(SGCD):c.-44+11G>A rs184722381 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000337.6(SGCD):c.4-12C>T rs727504580 0.00004
NM_000337.6(SGCD):c.-43-1G>A rs767016855 0.00003
NM_000337.6(SGCD):c.-44G>T rs727503420 0.00003
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys) rs768979513 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu) rs375159661 0.00003
NM_000337.6(SGCD):c.-44+1G>A rs959438136 0.00002
NM_000337.6(SGCD):c.1A>G (p.Met1Val) rs756367674 0.00002
NM_000337.6(SGCD):c.3+2T>A rs753979573 0.00002
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser) rs769250018 0.00001
NM_000337.5(SGCD):c.-139dup rs1554093270
NM_000337.5(SGCD):c.-626_-616del rs149976574
NM_000337.6(SGCD):c.-44+1G>C rs959438136
NM_000337.6(SGCD):c.-44+1_-44+2dup rs1554093294
NM_000337.6(SGCD):c.-44+2T>A rs1300537737
NM_000337.6(SGCD):c.-44+2T>G rs1300537737
NM_000337.6(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000337.6(SGCD):c.192+1G>A rs1267810339
NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn) rs786205286
NM_000337.6(SGCD):c.294+1G>A rs727503422
NM_000337.6(SGCD):c.3+1G>A rs777787493
NM_000337.6(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.6(SGCD):c.383-33CTCTCTAT[4] rs727504998
NM_000337.6(SGCD):c.383-33_383-13del rs1554119747
NM_000337.6(SGCD):c.383-35_383-34insA rs1554119750
NM_000337.6(SGCD):c.383-47CTCTCTC[4] rs780744816
NM_000337.6(SGCD):c.618del (p.Gly207fs) rs1554137109
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter) rs1175344271
NM_000337.6(SGCD):c.699+1G>T rs1554137130
NM_000337.6(SGCD):c.69C>A (p.Tyr23Ter) rs397517923
NM_000337.6(SGCD):c.772C>T (p.Gln258Ter) rs1224803345
NM_000337.6(SGCD):c.775_777del (p.Lys259del) rs1207864818

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