List of variants in gene combination LOC126861897, MHRT, MYH7 reported as uncertain significance for Emery-Dreifuss muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)	rs730880808	0.00004
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr)	rs145822086	0.00004
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)	rs397516233	0.00004
NM_000257.4(MYH7):c.4872G>A (p.Glu1624=)	rs766561921	0.00003
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr)	rs565663412	0.00003
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser)	rs730880913	0.00002
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)	rs150241539	0.00002
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)	rs1195157116	0.00002
NM_000257.4(MYH7):c.4659C>T (p.His1553=)	rs570079347	0.00001
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln)	rs730880806	0.00001
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln)	rs1257980330	0.00001
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)	rs730880809	0.00001
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys)	rs200530211	0.00001
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)	rs753115999	0.00001
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)	rs730880914	0.00001
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys)	rs1358888752	0.00001
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys)	rs730880915	0.00001
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His)	rs772008016	0.00001
NM_000257.4(MYH7):c.5157G>A (p.Gln1719=)	rs769875223	0.00001
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr)	rs144066768	0.00001
NM_000257.4(MYH7):c.4691A>C (p.Glu1564Ala)
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)	rs1595073523
NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly)	rs1892196940
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys)	rs730880810
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln)	rs730880810
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val)	rs397516229
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)	rs545875689
NM_000257.4(MYH7):c.4953+4C>T	rs933520031
NM_000257.4(MYH7):c.4953+6C>A	rs1892187663
NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro)	rs1892176969
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu)	rs1006534868
NM_000257.4(MYH7):c.5087A>G (p.Glu1696Gly)	rs1892168471
NM_000257.4(MYH7):c.5173_5175del (p.Asn1725del)
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val)	rs397516240
NM_000257.4(MYH7):c.5208G>C (p.Gln1736His)	rs886050416

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