List of variants in gene MYH7 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)	rs45611033	0.00003
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	rs148808089	0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)	rs397516103	0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)	rs121913626	0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)	rs397516179	0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	rs397516201	0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	rs145213771	0.00001
NM_000257.4(MYH7):c.445G>A (p.Glu149Lys)	rs773740053	0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)	rs397516265	0.00001
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn)	rs397516093
NM_000257.4(MYH7):c.1304T>A (p.Met435Lys)	rs1484300349
NM_000257.4(MYH7):c.1610A>C (p.Glu537Ala)	rs2138672545
NM_000257.4(MYH7):c.1640C>T (p.Thr547Ile)
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	rs727503263
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr)	rs606231332
NM_000257.4(MYH7):c.2710C>G (p.Arg904Gly)
NM_000257.4(MYH7):c.2761_2763del (p.Glu921del)	rs1595081779
NM_000257.4(MYH7):c.3336+1G>C	rs1892449432
NM_000257.4(MYH7):c.346-1G>A	rs1057519221
NM_000257.4(MYH7):c.379C>A (p.Pro127Thr)	rs2138684765
NM_000257.4(MYH7):c.461TCT[1] (p.Phe155del)
NM_000257.4(MYH7):c.488A>C (p.Gln163Pro)
NM_000257.4(MYH7):c.599C>T (p.Ala200Val)	rs1892956157
NM_000257.4(MYH7):c.686C>T (p.Ala229Val)	rs876657888
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	rs3218713

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