ClinVar Miner

List of variants in gene SHROOM4 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_020717.5(SHROOM4):c.1053C>A (p.Ser351Arg) rs59595864 0.00095
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr) rs149300669 0.00061
NM_020717.5(SHROOM4):c.3504C>T (p.Thr1168=) rs141453548 0.00056
NM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys) rs151329289 0.00039
NM_020717.5(SHROOM4):c.2481C>T (p.Asp827=) rs200860508 0.00037
NM_020717.5(SHROOM4):c.4281C>T (p.His1427=) rs368241036 0.00030
NM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala) rs201467037 0.00010
NM_020717.5(SHROOM4):c.1913C>G (p.Ser638Cys) rs200014853 0.00009
NM_020717.5(SHROOM4):c.3626C>T (p.Ala1209Val) rs782400213 0.00002
NM_020717.5(SHROOM4):c.2773C>T (p.Arg925Trp) rs782753421 0.00001
NM_020717.5(SHROOM4):c.39G>A (p.Val13=) rs141510048 0.00001
NM_020717.5(SHROOM4):c.4288C>T (p.Arg1430Cys) rs782455956 0.00001
NM_020717.5(SHROOM4):c.769C>T (p.Arg257Cys) rs1064796301 0.00001
NM_020717.5(SHROOM4):c.1145A>G (p.Asn382Ser)
NM_020717.5(SHROOM4):c.1201C>T (p.His401Tyr)
NM_020717.5(SHROOM4):c.1229A>G (p.His410Arg) rs1931260904
NM_020717.5(SHROOM4):c.1541G>T (p.Arg514Ile)
NM_020717.5(SHROOM4):c.1686G>A (p.Glu562=)
NM_020717.5(SHROOM4):c.1946C>T (p.Pro649Leu) rs2147293707
NM_020717.5(SHROOM4):c.2137G>A (p.Glu713Lys)
NM_020717.5(SHROOM4):c.2336A>G (p.Glu779Gly) rs1602387075
NM_020717.5(SHROOM4):c.2441T>C (p.Met814Thr)
NM_020717.5(SHROOM4):c.2815C>T (p.His939Tyr) rs1557254548
NM_020717.5(SHROOM4):c.2891T>G (p.Val964Gly) rs2147290014
NM_020717.5(SHROOM4):c.3033C>T (p.Asp1011=) rs1929778974
NM_020717.5(SHROOM4):c.3372_3374dup (p.Gln1128_Lys1129insGln) rs782409719
NM_020717.5(SHROOM4):c.3394G>A (p.Glu1132Lys) rs868972312
NM_020717.5(SHROOM4):c.3498A>G (p.Ser1166=)
NM_020717.5(SHROOM4):c.3756C>T (p.Ser1252=)
NM_020717.5(SHROOM4):c.3774G>T (p.Gln1258His)
NM_020717.5(SHROOM4):c.4030G>T (p.Ala1344Ser)
NM_020717.5(SHROOM4):c.4065C>A (p.Ala1355=)
NM_020717.5(SHROOM4):c.4065C>T (p.Ala1355=)
NM_020717.5(SHROOM4):c.4439A>G (p.Lys1480Arg) rs1929131698
NM_020717.5(SHROOM4):c.66C>T (p.Gly22=) rs145051435
NM_020717.5(SHROOM4):c.6_8del (p.Glu2_Asn3delinsAsp)
NM_020717.5(SHROOM4):c.763T>G (p.Ser255Ala)

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