ClinVar Miner

List of variants reported as likely pathogenic by deCODE genetics, Amgen

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ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358 0.00001
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs) rs774319202 0.00001
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1
NM_000038.6(APC):c.135+1G>A
NM_000038.6(APC):c.2803dup (p.Tyr935fs)
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3724C>T (p.Gln1242Ter) rs1460397656
NM_000038.6(APC):c.4667del (p.Thr1556fs)
NM_000038.6(APC):c.6474del (p.Phe2159fs)
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.6(APC):c.7927_7928del (p.Leu2643fs) rs1766600757
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1125del (p.Phe376fs)
NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs) rs80359293
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter) rs397507296
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter) rs886038122
NM_000059.4(BRCA2):c.607_610dup (p.Leu204fs)
NM_000059.4(BRCA2):c.6841G>T (p.Gly2281Ter)
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter) rs886040685
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter) rs1593201677
NM_000090.4(COL3A1):c.1138C>T (p.Gln380Ter)
NM_000090.4(COL3A1):c.1663-1G>T
NM_000090.4(COL3A1):c.1762-1G>T
NM_000090.4(COL3A1):c.2797G>T (p.Gly933Ter)
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter)
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr) rs1555398627
NM_000138.5(FBN1):c.4007_4010del (p.His1336fs)
NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)
NM_000138.5(FBN1):c.4211A>G (p.Asp1404Gly)
NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala)
NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter)
NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del)
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) rs187553035
NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)
NM_000169.3(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.3(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.394C>T (p.Gln132Ter) rs587782101
NM_000179.3(MSH6):c.457+1G>A
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)
NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter)
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter) rs1801410644
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs) rs864622174
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)
NM_000256.3(MYBPC3):c.1280C>A (p.Ser427Ter)
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter) rs1419032418
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000257.4(MYH7):c.4178T>C (p.Leu1393Pro)
NM_000257.4(MYH7):c.427C>G (p.Arg143Gly)
NM_000321.3(RB1):c.402dup (p.Leu135fs)
NM_000321.3(RB1):c.539+1G>A rs1566187856
NM_000335.5(SCN5A):c.3388-1G>C
NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000455.5(STK11):c.1036_1037del (p.Gly346fs)
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1727A>C (p.Tyr576Ser) rs879254999
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000535.7(PMS2):c.706-2A>T rs745487791
NM_000540.3(RYR1):c.10687-2A>G rs1600930323
NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr) rs2145586397
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000546.6(TP53):c.148dup (p.Ile50fs) rs1567556956
NM_000546.6(TP53):c.430C>T (p.Gln144Ter) rs757274881
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.489_495del (p.Lys164fs)
NM_000546.6(TP53):c.96+1G>C rs1131691003
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter) rs45517112
NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter) rs1555145520
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) rs1830383454
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.991+2T>A
NM_001267550.2(TTN):c.102953T>G (p.Leu34318Ter)
NM_001267550.2(TTN):c.103710G>A (p.Trp34570Ter)
NM_001267550.2(TTN):c.105251C>G (p.Ser35084Ter)
NM_001267550.2(TTN):c.3283del (p.Glu1095fs)
NM_001267550.2(TTN):c.48305G>A (p.Trp16102Ter)
NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)
NM_001267550.2(TTN):c.57998_57999del (p.Lys19333fs)
NM_001267550.2(TTN):c.64752_64756del (p.Leu21585fs)
NM_001267550.2(TTN):c.67613del (p.Thr22538fs)
NM_001267550.2(TTN):c.68087C>A (p.Ser22696Ter)
NM_001267550.2(TTN):c.69292_69299dup (p.Ala23101fs)
NM_001267550.2(TTN):c.72463del (p.Ile24155fs)
NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)
NM_001267550.2(TTN):c.8017A>T (p.Lys2673Ter)
NM_001267550.2(TTN):c.84969T>A (p.Tyr28323Ter)
NM_001267550.2(TTN):c.86140G>T (p.Gly28714Ter)
NM_001267550.2(TTN):c.89449G>T (p.Gly29817Ter)
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.91257del (p.Val30420fs)
NM_001267550.2(TTN):c.92173dup (p.Ile30725fs)
NM_001267550.2(TTN):c.95738del (p.Pro31913fs)
NM_001267550.2(TTN):c.97141_97145del (p.Leu32381fs)
NM_001267550.2(TTN):c.99909del (p.Leu33303_Leu33304insTer)
NM_001458.5(FLNC):c.1714C>T (p.Gln572Ter)
NM_001458.5(FLNC):c.3636C>G (p.Tyr1212Ter)
NM_001458.5(FLNC):c.3790+1G>C
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001458.5(FLNC):c.4172C>A (p.Ser1391Ter)
NM_001458.5(FLNC):c.711del (p.Glu238fs)
NM_003000.3(SDHB):c.72+2T>G
NM_003002.4(SDHD):c.117del (p.Ile40fs)
NM_004329.3(BMPR1A):c.614C>A (p.Ser205Ter)
NM_004415.4(DSP):c.4336C>T (p.Gln1446Ter)
NM_004415.4(DSP):c.4404_4410del (p.Leu1469fs)
NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)
NM_004415.4(DSP):c.5840_5841dup (p.Gly1948fs)
NM_004415.4(DSP):c.7762G>T (p.Glu2588Ter)
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu) rs1555405092
NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)
NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
NM_017849.4(TMEM127):c.2T>C (p.Met1Thr)
NM_017849.4(TMEM127):c.409+1G>T rs121908825
NM_024675.4(PALB2):c.1684+1G>T rs1555461148
NM_024675.4(PALB2):c.1916_1926del (p.Glu639fs)
NM_024675.4(PALB2):c.1933del (p.Glu645fs)
NM_024675.4(PALB2):c.2835-1G>T
NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter) rs62625271
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) rs1555461627
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)

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