ClinVar Miner

List of variants in gene WDR19 studied for connective tissue disorder

Included ClinVar conditions (370):
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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys) rs76326086 0.00117
NM_025132.4(WDR19):c.1030C>G (p.His344Asp) rs76599296 0.00063
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_025132.4(WDR19):c.1354T>C (p.Leu452=) rs2109329940
NM_025132.4(WDR19):c.2932A>G (p.Lys978Glu) rs2109440327
NM_025132.4(WDR19):c.685C>G (p.Gln229Glu) rs1727822959

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