ClinVar Miner

Variants with conflicting interpretations "pathogenic" from GeneDx and "benign" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
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Total variants with conflicting interpretations: 33
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
UGT1A1*6 rs4148323 0.00891
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp) rs137852860 0.00490
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00150
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000444.6(PHEX):c.1241del (p.Leu414fs) rs886041446
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000892.5(KLKB1):c.451dup (p.Ser151fs) rs560588447
NM_001042492.3(NF1):c.730+2T>G rs200962248
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_004407.4(DMP1):c.1A>G (p.Met1Val) rs104893834
NM_015665.6(AAAS):c.885G>A (p.Trp295Ter) rs766542823
NM_018418.4(SPATA7):c.20_23del rs527236050
Single allele

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