List of variants in gene MYBPC3 studied for Primary dilated cardiomyopathy

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)	rs34580776	0.00376
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)	rs11570112	0.00247
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)	rs199865688	0.00122
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)	rs187705120	0.00106
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)	rs193922380	0.00086
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)	rs201312636	0.00063
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)	rs199669878	0.00036
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)	rs397515922	0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)	rs200119454	0.00025
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys)	rs397516075	0.00007
NM_000256.3(MYBPC3):c.1091C>T (p.Ala364Val)	rs778161908	0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	rs371488302	0.00004
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly)	rs372371774	0.00002
NM_000256.3(MYBPC3):c.1433C>T (p.Ser478Leu)	rs730880540	0.00001
NM_000256.3(MYBPC3):c.821+1G>A	rs397516073	0.00001
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val)	rs730880553
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)	rs371564200
NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly)	rs397515939
NM_000256.3(MYBPC3):c.2504del (p.Arg835fs)	rs876657704
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)	rs397516028
NM_000256.3(MYBPC3):c.742G>T (p.Asp248Tyr)
NM_000256.3(MYBPC3):c.93C>A (p.Ala31=)

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