ClinVar Miner

List of variants in gene CASR reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_000388.4(CASR):c.1045A>G (p.Lys349Glu) rs1576859001
NM_000388.4(CASR):c.1087G>A (p.Gly363Ser) rs757475954
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541
NM_000388.4(CASR):c.1105C>A (p.Pro369Thr) rs1217895146
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg) rs145869851
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser) rs148573275
NM_000388.4(CASR):c.1168G>A (p.Ala390Thr) rs202228006
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly) rs202101164
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000
NM_000388.4(CASR):c.1412A>T (p.Asn471Ile) rs145042469
NM_000388.4(CASR):c.1456G>A (p.Val486Met) rs201829972
NM_000388.4(CASR):c.1573G>A (p.Glu525Lys) rs199688157
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) rs1576875819
NM_000388.4(CASR):c.1943G>A (p.Arg648Gln) rs757736220
NM_000388.4(CASR):c.2104G>A (p.Val702Ile) rs201828974
NM_000388.4(CASR):c.2140T>C (p.Phe714Leu) rs1576877507
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe) rs942603230
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) rs375468610
NM_000388.4(CASR):c.2311A>T (p.Met771Leu) rs1576877805
NM_000388.4(CASR):c.2314G>A (p.Ala772Thr) rs199508583
NM_000388.4(CASR):c.2548G>A (p.Ala850Thr) rs1418475623
NM_000388.4(CASR):c.2687G>A (p.Arg896His) rs773552397
NM_000388.4(CASR):c.2690A>G (p.Lys897Arg) rs897282559
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975
NM_000388.4(CASR):c.2803C>A (p.Pro935Thr) rs201449422
NM_000388.4(CASR):c.2818C>A (p.Gln940Lys) rs1576878568
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000388.4(CASR):c.3103C>T (p.Pro1035Ser) rs762383457
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp) rs193921082
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831
NM_000388.4(CASR):c.449C>T (p.Ser150Phe) rs1559956735
NM_000388.4(CASR):c.492+5T>A rs200277155
NM_000388.4(CASR):c.562C>A (p.Pro188Thr) rs778535491
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096
NM_000388.4(CASR):c.921G>A (p.Met307Ile) rs751095642

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