ClinVar Miner

Variants with conflicting interpretations "pathogenic" from GeneDx and "risk factor" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 34
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HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00029
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) rs104894130 0.00021
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His) rs1800559
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133

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