Variants with conflicting interpretations "benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "pathogenic" from OMIM

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants with conflicting interpretations: 16

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HGVS	dbSNP	gnomAD frequency
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)	rs1799958	0.20617
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)	rs11558492	0.15938
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu)	rs5036	0.05002
NM_000022.2(ADA):c.22G>A (p.Asp8Asn)	rs73598374	0.04175
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)	rs35948326	0.03419
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)	rs1800556	0.03280
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)	rs7626962	0.02208
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)	rs55758736	0.01485
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)	rs41303129	0.01390
NM_003597.5(KLF11):c.659C>T (p.Thr220Met)	rs34336420	0.01310
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)	rs77775126	0.00985
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile)	rs114583297	0.00817
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)	rs199476099	0.00351
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)	rs72552293	0.00291
NM_000518.5(HBB):c.363A>C (p.Lys121Asn)	rs34726542
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)	rs113363047

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