List of variants in gene MYL2 studied for hereditary skeletal muscle disorder

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)	rs199474808	0.00038
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)	rs143139258	0.00029
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)	rs192057022	0.00009
NM_000432.4(MYL2):c.403-1G>C	rs199474813	0.00004
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu)	rs730880945	0.00004
NM_000432.4(MYL2):c.375G>A (p.Thr125=)	rs190020833	0.00003
NM_000432.4(MYL2):c.203A>G (p.Glu68Gly)	rs752456288	0.00002
NM_000432.4(MYL2):c.366G>T (p.Met122Ile)	rs374439285	0.00002
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn)	rs727504405	0.00001
NM_000432.4(MYL2):c.206T>C (p.Met69Thr)	rs2071674449	0.00001
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly)	rs397516404	0.00001
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu)	rs727504341	0.00001
NM_000432.4(MYL2):c.*84C>T	rs867853414
NM_000432.4(MYL2):c.353+20del	rs3833910
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu)	rs1064796377
NM_000432.4(MYL2):c.376C>T (p.Gln126Ter)	rs1064796377
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)	rs1566147422
NM_000432.4(MYL2):c.431del (p.Pro144fs)	rs786205430
NM_000432.4(MYL2):c.432del (p.Asp145fs)	rs2071649414
NM_000432.4(MYL2):c.499T>C (p.Ter167Gln)	rs2071647433

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