ClinVar Miner

List of variants reported as pathogenic for Moyamoya syndrome by Invitae

Included ClinVar conditions (50):
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Total variants: 24
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HGVS dbSNP
NM_001111.4(ADAR):c.2433_2434delAG (p.Ala813Glnfs) rs779357448
NM_001111.5(ADAR):c.3346del (p.Arg1116Glyfs)
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_006912.5(RIT1):c.104G>C (p.Ser35Thr) rs869025189
NM_006912.5(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.5(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.5(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.5(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.5(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.5(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.5(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.5(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.5(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.3(SAMHD1):c.1408delA (p.Arg470Glyfs)
NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517
NM_024570.3(RNASEH2B):c.121delG (p.Val41Leufs)
NM_024570.3(RNASEH2B):c.136+1delG
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024570.3(RNASEH2B):c.667G>T (p.Glu223Ter) rs1555257383
NM_024570.3(RNASEH2B):c.719C>G (p.Ser240Ter)
NM_033629.2(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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