ClinVar Miner

List of variants in gene WAS reported as benign for thrombocytopenia 1

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser) rs201085962 0.00160
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_000377.3(WAS):c.413G>A (p.Arg138Gln) rs139265251 0.00073
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000377.3(WAS):c.90C>T (p.His30=) rs148800063 0.00053
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu) rs373524969 0.00031
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_000377.3(WAS):c.1200G>A (p.Pro400=) rs375356111 0.00028
NM_000377.3(WAS):c.1455C>T (p.Asp485=) rs35359501 0.00021
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_000377.3(WAS):c.903G>C (p.Glu301Asp) rs781898144 0.00010
NM_000377.3(WAS):c.696G>A (p.Lys232=) rs368379103 0.00009
NM_000377.3(WAS):c.264C>T (p.Tyr88=) rs150520117 0.00008
NM_000377.3(WAS):c.285G>A (p.Leu95=) rs781799471 0.00008
NM_000377.3(WAS):c.1299G>A (p.Ala433=) rs372649110 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_000377.3(WAS):c.724A>T (p.Ser242Cys) rs782286374 0.00006
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) rs201657175 0.00005
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser) rs782784813 0.00005
NM_000377.3(WAS):c.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_000377.3(WAS):c.133-18C>T rs782578064 0.00003
NM_000377.3(WAS):c.463+14A>C rs1338084492 0.00003
NM_000377.3(WAS):c.912G>A (p.Arg304=) rs782572275 0.00003
NM_000377.3(WAS):c.16A>G (p.Met6Val) rs782730988 0.00002
NM_000377.3(WAS):c.249C>T (p.Tyr83=) rs368151220 0.00002
NM_000377.3(WAS):c.999G>A (p.Gly333=) rs369654974 0.00002
NM_000377.3(WAS):c.184G>C (p.Glu62Gln) rs141605347 0.00001
NM_000377.3(WAS):c.327C>G (p.Thr109=) rs1288545461 0.00001
NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del) rs193922412
NM_000377.3(WAS):c.1272C>T (p.Gly424=)
NM_000377.3(WAS):c.133-19C>G
NM_000377.3(WAS):c.1453+17G>A
NM_000377.3(WAS):c.1467C>T (p.Asp489=)
NM_000377.3(WAS):c.1506C>T (p.Asp502=)
NM_000377.3(WAS):c.273+10_273+11dup rs58371799
NM_000377.3(WAS):c.273+11del
NM_000377.3(WAS):c.273+11dup rs58371799
NM_000377.3(WAS):c.559+4C>T
NM_000377.3(WAS):c.560-4A>C
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000377.3(WAS):c.576G>A (p.Pro192=)
NM_000377.3(WAS):c.606C>A (p.Ile202=)
NM_000377.3(WAS):c.618C>T (p.Asp206=)
NM_000377.3(WAS):c.638G>A (p.Arg213His)
NM_000377.3(WAS):c.689AGA[2] (p.Lys232del) rs782409127
NM_000377.3(WAS):c.6T>C (p.Ser2=)
NM_000377.3(WAS):c.765G>C (p.Gln255His)
NM_000377.3(WAS):c.931+20C>A rs782462041
NM_000377.3(WAS):c.945G>A (p.Pro315=)

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