List of variants in gene MYBPC1 studied for lethal congenital contracture syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=)	rs7139095	0.95112
NM_002465.4(MYBPC1):c.1633+33T>C	rs1997204	0.94445
NM_002465.4(MYBPC1):c.2222-38T>C	rs2254631	0.63203
NM_002465.4(MYBPC1):c.*78G>A	rs2764	0.55606
NM_002465.4(MYBPC1):c.774C>T (p.Asp258=)	rs2293468	0.29320
NM_002465.4(MYBPC1):c.1634-18del	rs3835190	0.22202
NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=)	rs764291	0.20383
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln)	rs3817552	0.14585
NM_002465.4(MYBPC1):c.3492+39C>T	rs35621105	0.03732
NM_002465.4(MYBPC1):c.608+14A>G	rs4448745	0.00545
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=)	rs79442861	0.00543
NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln)	rs778424803	0.00002
NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter)	rs397515422	0.00001
NM_002465.4(MYBPC1):c.2510T>G (p.Val837Gly)	rs1555250509
NM_002465.4(MYBPC1):c.32A>G (p.Glu11Gly)	rs1309691397
NM_002465.4(MYBPC1):c.355T>C (p.Trp119Arg)

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