ClinVar Miner

List of variants in gene combination ACTC1, LOC101928174 studied for not provided

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Total variants: 85
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HGVS dbSNP
NM_005159.5(ACTC1):c.-22-212A>T rs115016806
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=) rs151321743
NM_005159.5(ACTC1):c.1083G>T (p.Lys361Asn) rs754736799
NM_005159.5(ACTC1):c.1090T>A (p.Tyr364Asn) rs1555418631
NM_005159.5(ACTC1):c.10G>C (p.Asp4His) rs730880408
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.5(ACTC1):c.1124A>G (p.Lys375Arg) rs869025355
NM_005159.5(ACTC1):c.129+118G>A rs78848103
NM_005159.5(ACTC1):c.129+219_129+224del rs527292617
NM_005159.5(ACTC1):c.129+319T>G rs77247635
NM_005159.5(ACTC1):c.129+32C>A rs76013827
NM_005159.5(ACTC1):c.130-127G>C rs7165006
NM_005159.5(ACTC1):c.161C>T (p.Ser54Phe) rs730880391
NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg) rs794727502
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala) rs730880390
NM_005159.5(ACTC1):c.275_277del (p.Phe92del) rs730880388
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057
NM_005159.5(ACTC1):c.299C>T (p.Pro100Leu) rs876661195
NM_005159.5(ACTC1):c.300C>T (p.Pro100=) rs141322728
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_005159.5(ACTC1):c.309C>A (p.His103Gln) rs769303249
NM_005159.5(ACTC1):c.309C>T (p.His103=) rs769303249
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.311C>T (p.Pro104Leu) rs1405829098
NM_005159.5(ACTC1):c.328G>A (p.Ala110Thr) rs1057523500
NM_005159.5(ACTC1):c.342C>T (p.Pro114=) rs878854754
NM_005159.5(ACTC1):c.431T>G (p.Leu144Arg) rs1057524277
NM_005159.5(ACTC1):c.432G>T (p.Leu144=) rs1595761302
NM_005159.5(ACTC1):c.447T>C (p.Arg149=) rs1315206069
NM_005159.5(ACTC1):c.454+245G>A rs2070664
NM_005159.5(ACTC1):c.455-243A>T rs76891510
NM_005159.5(ACTC1):c.455-7C>T rs768363857
NM_005159.5(ACTC1):c.456C>T (p.Gly152=) rs771310484
NM_005159.5(ACTC1):c.475G>A (p.Asp159Asn) rs397517063
NM_005159.5(ACTC1):c.496C>T (p.Pro166Ser) rs267606628
NM_005159.5(ACTC1):c.498C>T (p.Pro166=) rs370082904
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.5(ACTC1):c.516T>C (p.Ala172=) rs397517064
NM_005159.5(ACTC1):c.523dup (p.His175fs) rs730880389
NM_005159.5(ACTC1):c.541G>C (p.Asp181His) rs730880393
NM_005159.5(ACTC1):c.563C>T (p.Thr188Ile) rs730880394
NM_005159.5(ACTC1):c.570C>T (p.Tyr190=) rs1595760934
NM_005159.5(ACTC1):c.579G>T (p.Lys193Asn) rs730880395
NM_005159.5(ACTC1):c.580A>G (p.Ile194Val) rs1595760924
NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe) rs730880038
NM_005159.5(ACTC1):c.658T>C (p.Tyr220His) rs1595760821
NM_005159.5(ACTC1):c.663C>T (p.Val221=) rs766868624
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005159.5(ACTC1):c.66C>T (p.Gly22=) rs1060504729
NM_005159.5(ACTC1):c.694G>A (p.Ala232Thr) rs1131691829
NM_005159.5(ACTC1):c.695C>T (p.Ala232Val) rs730880396
NM_005159.5(ACTC1):c.69T>A (p.Phe23Leu) rs1555419008
NM_005159.5(ACTC1):c.700T>C (p.Ser234Pro) rs730880397
NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln) rs1555418785
NM_005159.5(ACTC1):c.741C>A (p.Gly247=) rs1595760747
NM_005159.5(ACTC1):c.747C>T (p.Val249=) rs1470571495
NM_005159.5(ACTC1):c.751A>G (p.Thr251Ala) rs730880039
NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr) rs730880398
NM_005159.5(ACTC1):c.75C>G (p.Gly25=)
NM_005159.5(ACTC1):c.769T>C (p.Phe257Leu) rs730880399
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.5(ACTC1):c.798C>T (p.Pro266=) rs397517068
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.5(ACTC1):c.808+169G>A rs3729756
NM_005159.5(ACTC1):c.808+185A>G rs3729757
NM_005159.5(ACTC1):c.808+1G>C rs730880400
NM_005159.5(ACTC1):c.809-304G>A rs62006139
NM_005159.5(ACTC1):c.809-8G>A rs767180775
NM_005159.5(ACTC1):c.809-8G>T rs767180775
NM_005159.5(ACTC1):c.812T>C (p.Met271Thr) rs730880401
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) rs397517072
NM_005159.5(ACTC1):c.84G>T (p.Ala28=) rs1008290796
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) rs727504379
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His) rs730880402
NM_005159.5(ACTC1):c.930T>C (p.Gly310=) rs561081869
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673
NM_005159.5(ACTC1):c.952G>A (p.Glu318Lys) rs730880403
NM_005159.5(ACTC1):c.954A>C (p.Glu318Asp) rs1057520547
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr) rs730880410
NM_005159.5(ACTC1):c.990+236C>T rs73387696
NM_005159.5(ACTC1):c.990+64C>T rs2307494
NM_005159.5(ACTC1):c.991-262C>T rs116419104
NM_005159.5(ACTC1):c.998C>T (p.Ala333Val) rs730880406

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