List of variants in gene POMT2 studied for Autosomal recessive limb-girdle muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)	rs267606971	0.00003
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)	rs727502855	0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)	rs587780423	0.00002
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)	rs119463989	0.00001
NM_013382.7(POMT2):c.785G>A (p.Trp262Ter)	rs2503276780
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)	rs200542239
NM_013382.7(POMT2):c.924-2A>C	rs886044256

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