List of variants in gene MAP2K1, SNAPC5 studied for multiple congenital anomalies/dysmorphic syndrome

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

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.148_149del	rs745540522	0.00006
NM_002755.4(MAP2K1):c.1062A>C (p.Gln354His)	rs750035241	0.00002
NM_002755.4(MAP2K1):c.1135A>G (p.Ile379Val)	rs373794940	0.00002
NM_002755.4(MAP2K1):c.1177G>A (p.Val393Ile)	rs200442489	0.00002
NM_002755.4(MAP2K1):c.*17A>T
NM_002755.4(MAP2K1):c.*917del	rs886051370
NM_002755.4(MAP2K1):c.*917dup	rs886051370
NM_002755.4(MAP2K1):c.1068+12_1068+15del	rs397516788
NM_002755.4(MAP2K1):c.1068+5G>A
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr)	rs1595889532
NM_002755.4(MAP2K1):c.1166A>G (p.His389Arg)

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