ClinVar Miner

List of variants in gene CASR reported as likely benign for Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1

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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP
NM_000388.4(CASR):c.1011C>G (p.Val337=) rs201820733
NM_000388.4(CASR):c.1014T>C (p.His338=) rs1553766831
NM_000388.4(CASR):c.1116C>T (p.Thr372=) rs539867627
NM_000388.4(CASR):c.114T>C (p.Phe38=) rs61733590
NM_000388.4(CASR):c.1179C>T (p.Pro393=) rs1553766873
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696
NM_000388.4(CASR):c.1212C>G (p.Val404=) rs967661303
NM_000388.4(CASR):c.123T>C (p.His41=) rs1331565057
NM_000388.4(CASR):c.1287C>T (p.His429=) rs746515147
NM_000388.4(CASR):c.1305T>C (p.Tyr435=) rs1553766914
NM_000388.4(CASR):c.1326G>A (p.Gly442=) rs1266818477
NM_000388.4(CASR):c.1398T>C (p.His466=) rs760939658
NM_000388.4(CASR):c.1437T>C (p.Phe479=) rs143360516
NM_000388.4(CASR):c.1449T>C (p.Gly483=) rs771186654
NM_000388.4(CASR):c.1491C>T (p.Ser497=) rs150337940
NM_000388.4(CASR):c.1539C>T (p.Val513=) rs1553768122
NM_000388.4(CASR):c.1596G>T (p.Gly532=) rs774666667
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.4(CASR):c.1638C>T (p.Cys546=) rs143047343
NM_000388.4(CASR):c.165G>A (p.Pro55=) rs200018529
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.1668G>A (p.Glu556=) rs186279271
NM_000388.4(CASR):c.1713G>A (p.Gly571=) rs200878919
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329
NM_000388.4(CASR):c.1827G>A (p.Thr609=) rs200868156
NM_000388.4(CASR):c.1851C>A (p.Thr617=) rs1553768940
NM_000388.4(CASR):c.1854C>T (p.Leu618=) rs1553768941
NM_000388.4(CASR):c.1942C>A (p.Arg648=) rs104893705
NM_000388.4(CASR):c.1974G>T (p.Leu658=) rs770178952
NM_000388.4(CASR):c.2028G>A (p.Thr676=) rs563112343
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.2076C>T (p.Ile692=) rs1553768999
NM_000388.4(CASR):c.2145C>T (p.His715=) rs201242061
NM_000388.4(CASR):c.2238G>A (p.Ala746=) rs149557554
NM_000388.4(CASR):c.2280C>A (p.Ile760=) rs1553769074
NM_000388.4(CASR):c.2298C>T (p.His766=) rs200723499
NM_000388.4(CASR):c.2343C>T (p.Cys781=) rs1553769084
NM_000388.4(CASR):c.2373C>T (p.Ala791=) rs1553769095
NM_000388.4(CASR):c.2550G>A (p.Ala850=) rs867061333
NM_000388.4(CASR):c.2571C>T (p.Ile857=) rs1367231182
NM_000388.4(CASR):c.258C>A (p.Ala86=) rs1060504736
NM_000388.4(CASR):c.2613G>A (p.Glu871=) rs1553769147
NM_000388.4(CASR):c.2664G>C (p.Thr888=) rs751165754
NM_000388.4(CASR):c.2742C>T (p.Ile914=) rs539528196
NM_000388.4(CASR):c.2769A>G (p.Pro923=) rs199508670
NM_000388.4(CASR):c.2805G>A (p.Pro935=) rs1358539214
NM_000388.4(CASR):c.2806C>T (p.Leu936=) rs1396995630
NM_000388.4(CASR):c.2838G>A (p.Gln946=) rs774889993
NM_000388.4(CASR):c.2841C>G (p.Pro947=) rs1553769221
NM_000388.4(CASR):c.288G>A (p.Arg96=) rs375151193
NM_000388.4(CASR):c.2901C>A (p.Ile967=) rs199594582
NM_000388.4(CASR):c.2916G>A (p.Thr972=) rs769047966
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115
NM_000388.4(CASR):c.2964C>G (p.Ala988=) rs202014330
NM_000388.4(CASR):c.2973T>C (p.Asn991=) rs1257108488
NM_000388.4(CASR):c.3063G>C (p.Thr1021=) rs193922440
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000388.4(CASR):c.309C>T (p.Thr103=) rs373057548
NM_000388.4(CASR):c.3132G>A (p.Val1044=) rs755277801
NM_000388.4(CASR):c.322T>C (p.Leu108=) rs1553766241
NM_000388.4(CASR):c.3234A>G (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.3236A>G (p.Ter1079=) rs1060504735
NM_000388.4(CASR):c.375T>G (p.Leu125=) rs780725247
NM_000388.4(CASR):c.396A>G (p.Ser132=) rs1060504737
NM_000388.4(CASR):c.414G>A (p.Thr138=) rs984531247
NM_000388.4(CASR):c.474G>C (p.Gly158=) rs892809123
NM_000388.4(CASR):c.492+10C>T rs906977634
NM_000388.4(CASR):c.514A>C (p.Arg172=) rs201851934
NM_000388.4(CASR):c.546T>A (p.Ser182=) rs200545177
NM_000388.4(CASR):c.579G>A (p.Gln193=) rs933291696
NM_000388.4(CASR):c.57C>T (p.Ala19=) rs761576251
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.675A>G (p.Lys225=) rs202226622
NM_000388.4(CASR):c.705C>A (p.Ile235=) rs199887150
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000388.4(CASR):c.762T>C (p.His254=) rs76438850
NM_000388.4(CASR):c.780A>G (p.Gln260=) rs1060504734
NM_000388.4(CASR):c.78C>T (p.Ala26=) rs77852524
NM_000388.4(CASR):c.828T>C (p.Leu276=) rs767726621
NM_000388.4(CASR):c.864C>T (p.Ile288=) rs1553766801
NM_000388.4(CASR):c.885C>T (p.Ala295=) rs147307274
NM_000388.4(CASR):c.909C>G (p.Ser303=) rs375005541
NM_000388.4(CASR):c.960C>T (p.Phe320=) rs753011255

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