ClinVar Miner

List of variants in gene MAX reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_002382.5(MAX):c.406G>A (p.Gly136Arg) rs140490467 0.00019
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674 0.00012
NM_002382.5(MAX):c.426G>A (p.Ser142=) rs145787299 0.00011
NM_002382.5(MAX):c.279T>C (p.Ala93=) rs145370107 0.00009
NM_002382.5(MAX):c.177C>G (p.Ser59=) rs781103630 0.00004
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_002382.5(MAX):c.402C>T (p.Phe134=) rs765370870 0.00002
NM_002382.5(MAX):c.258C>T (p.Asp86=) rs780385213 0.00001
NM_002382.5(MAX):c.282T>C (p.Leu94=) rs1413313831 0.00001
NM_002382.5(MAX):c.375C>T (p.Asn125=) rs370238588 0.00001
NM_002382.5(MAX):c.414G>A (p.Ser138=) rs559090673 0.00001
NM_002382.5(MAX):c.42G>A (p.Glu14=) rs1350578690 0.00001
NM_002382.5(MAX):c.438T>C (p.Pro146=) rs1259526031 0.00001
NM_002382.5(MAX):c.450A>G (p.Gln150=) rs2063058995 0.00001
NM_002382.5(MAX):c.462G>A (p.Lys154=) rs1203172320 0.00001
NM_002382.5(MAX):c.57A>G (p.Gln19=) rs1395966308 0.00001
NM_002382.5(MAX):c.183C>T (p.Ala61=)
NM_002382.5(MAX):c.201C>T (p.Ala67=)
NM_002382.5(MAX):c.210T>C (p.Tyr70=)
NM_002382.5(MAX):c.213C>A (p.Ile71=)
NM_002382.5(MAX):c.225A>C (p.Arg75=) rs2063104742
NM_002382.5(MAX):c.237C>T (p.His79=)
NM_002382.5(MAX):c.240A>G (p.Thr80=)
NM_002382.5(MAX):c.252T>C (p.Asp84=)
NM_002382.5(MAX):c.261C>T (p.Asp87=) rs750761201
NM_002382.5(MAX):c.264C>T (p.Leu88=) rs2139753133
NM_002382.5(MAX):c.267G>A (p.Lys89=)
NM_002382.5(MAX):c.268C>A (p.Arg90=) rs1060500099
NM_002382.5(MAX):c.297C>T (p.Val99=)
NM_002382.5(MAX):c.303A>G (p.Ala101=)
NM_002382.5(MAX):c.312G>A (p.Lys104=)
NM_002382.5(MAX):c.315G>A (p.Ala105=) rs761220254
NM_002382.5(MAX):c.321A>G (p.Ser107=)
NM_002382.5(MAX):c.327C>T (p.Ala109=) rs1595127360
NM_002382.5(MAX):c.330A>G (p.Gln110=) rs772661746
NM_002382.5(MAX):c.333G>A (p.Leu111=) rs2139741549
NM_002382.5(MAX):c.336G>A (p.Gln112=) rs1595127306
NM_002382.5(MAX):c.339C>A (p.Thr113=) rs786203812
NM_002382.5(MAX):c.345C>T (p.Tyr115=)
NM_002382.5(MAX):c.348C>G (p.Pro116=)
NM_002382.5(MAX):c.360C>T (p.Asn120=) rs1555340209
NM_002382.5(MAX):c.363C>T (p.Ser121=)
NM_002382.5(MAX):c.369C>T (p.Tyr123=) rs2063063134
NM_002382.5(MAX):c.37-15dup rs747340873
NM_002382.5(MAX):c.372C>G (p.Thr124=)
NM_002382.5(MAX):c.378C>T (p.Ala126=) rs2139740643
NM_002382.5(MAX):c.405T>C (p.Asp135=) rs1354621995
NM_002382.5(MAX):c.408G>A (p.Gly136=) rs764320975
NM_002382.5(MAX):c.432T>C (p.Ser144=) rs1485899939
NM_002382.5(MAX):c.435G>A (p.Glu145=) rs1555340184
NM_002382.5(MAX):c.447C>G (p.Pro149=)
NM_002382.5(MAX):c.456G>A (p.Arg152=) rs546006873
NM_002382.5(MAX):c.60T>G (p.Ser20=)

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