List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2D by Revvity Omics, Revvity

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)	rs28933693	0.00046
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	rs137852621	0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	rs768814872	0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His)	rs371675217	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)	rs387907298	0.00001
NM_000023.4(SGCA):c.585-1G>A	rs1342189589	0.00001
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)	rs766400853
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)	rs1555568518
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)	rs886043221
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)	rs1057517377
NM_000023.4(SGCA):c.904del (p.Leu302fs)	rs2144501172
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	rs903823830

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