List of variants in gene LOC130000896, RRM2B studied for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015713.5(RRM2B):c.48G>A (p.Glu16=)	rs515726180	0.00002
NM_015713.5(RRM2B):c.-1G>C	rs1437655477	0.00001
NM_015713.5(RRM2B):c.-2C>T	rs762851256
NM_015713.5(RRM2B):c.19C>T (p.Pro7Ser)
NM_015713.5(RRM2B):c.20C>T (p.Pro7Leu)
NM_015713.5(RRM2B):c.32G>A (p.Gly11Glu)
NM_015713.5(RRM2B):c.40C>T (p.Gln14Ter)

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