ClinVar Miner

List of variants reported as uncertain significance for Intestinal hypomagnesemia 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_017662.5(TRPM6):c.1101A>C (p.Gln367His) rs143440493 0.00041
NM_017662.5(TRPM6):c.4591C>T (p.Arg1531Cys) rs141526694 0.00037
NM_017662.5(TRPM6):c.4153G>T (p.Val1385Phe) rs201256788 0.00011
NM_017662.5(TRPM6):c.5216C>G (p.Thr1739Ser) rs141933515 0.00011
NM_017662.5(TRPM6):c.2066G>T (p.Arg689Leu) rs375390431 0.00009
NM_017662.5(TRPM6):c.2920-3C>T rs775883873 0.00009
NM_017662.5(TRPM6):c.5339G>A (p.Arg1780His) rs147011944 0.00009
NM_017662.5(TRPM6):c.118A>T (p.Thr40Ser) rs200010812 0.00006
NM_017662.5(TRPM6):c.945G>A (p.Val315=) rs755989609 0.00006
NM_017662.5(TRPM6):c.218C>T (p.Ala73Val) rs778083572 0.00005
NM_017662.5(TRPM6):c.1929C>G (p.Ile643Met) rs369402852 0.00004
NM_017662.5(TRPM6):c.3550T>C (p.Tyr1184His) rs775495891 0.00002
NM_017662.5(TRPM6):c.766G>A (p.Val256Met) rs781237985 0.00002
NM_017662.5(TRPM6):c.1756T>G (p.Ser586Ala) rs191316620 0.00001
NM_017662.5(TRPM6):c.2087C>T (p.Thr696Met) rs962152569 0.00001
NM_017662.5(TRPM6):c.3211A>G (p.Asn1071Asp) rs2274922 0.00001
NM_017662.5(TRPM6):c.4519G>A (p.Ala1507Thr) rs201465026 0.00001
NM_017662.5(TRPM6):c.5631G>C (p.Lys1877Asn) rs771049990 0.00001
NM_017662.5(TRPM6):c.2608G>A (p.Val870Met) rs180963446
NM_017662.5(TRPM6):c.4698G>T (p.Gly1566=) rs542601704

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