ClinVar Miner

List of variants in gene combination MAP2K1, SNAPC5 reported as uncertain significance for RASopathy

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_002755.3(MAP2K1):c.1062A>C (p.Gln354His)
NM_002755.3(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.3(MAP2K1):c.1068+9A>G rs368800650
NM_002755.3(MAP2K1):c.1069-12C>A rs781412352
NM_002755.3(MAP2K1):c.1123C>A (p.Leu375Ile) rs752538915
NM_002755.3(MAP2K1):c.1130C>T (p.Ser377Phe) rs371140798
NM_002755.3(MAP2K1):c.1135A>G (p.Ile379Val)
NM_002755.3(MAP2K1):c.1137C>T (p.Ile379=) rs150841154
NM_002755.3(MAP2K1):c.1168G>A (p.Ala390Thr) rs730880500
NM_002755.3(MAP2K1):c.1181_*2del (p.Ter394CysextTer?)
NM_006049.4(SNAPC5):c.22-143C>T rs886051367
NM_006049.4(SNAPC5):c.22-47_22-46del rs745540522
NM_006049.4(SNAPC5):c.22-512C>A rs886051368
NM_006049.4(SNAPC5):c.22-513C>A rs886051369
NM_006049.4(SNAPC5):c.22-678A>G rs770655370
NM_006049.4(SNAPC5):c.22-788T>C rs138560168
NM_006049.4(SNAPC5):c.22-795A>G rs548081932
NM_006049.4(SNAPC5):c.22-806del rs886051370
NM_006049.4(SNAPC5):c.22-815dup rs886051370

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