List of variants in gene MYBPC3 reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	rs121909374	0.00006
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000256.3(MYBPC3):c.3330+2T>G	rs387906397	0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	rs36211723	0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	rs397515963	0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)	rs187830361	0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)	rs2856655	0.00002
NM_000256.3(MYBPC3):c.26-2A>G	rs376395543	0.00002
NM_000256.3(MYBPC3):c.3190+5G>A	rs587782958	0.00002
NM_000256.3(MYBPC3):c.927-9G>A	rs397516083	0.00002
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)	rs397515990	0.00001
NM_000256.3(MYBPC3):c.3190+1G>A	rs111683277	0.00001
NM_000256.3(MYBPC3):c.3190+2T>G	rs113358486	0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	rs121909377	0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	rs397516037	0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)	rs397516042	0.00001
NM_000256.3(MYBPC3):c.1928-2A>G	rs397515937
NM_000256.3(MYBPC3):c.2309-2A>G	rs111729952
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp)	rs727503188
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs)	rs730880653
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	rs397515982
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	rs397515992
NM_000256.3(MYBPC3):c.3330+5G>C	rs373746463
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	rs193922384
NM_000256.3(MYBPC3):c.459del (p.Ile154fs)	rs397516052
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	rs397516068
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	rs397516080

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