Variants with conflicting interpretations "uncertain significance" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "benign" from Mendelics

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Total variants with conflicting interpretations: 6

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)	rs144979397	0.00495
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)	rs137933390	0.00282
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)	rs141069645	0.00042
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)	rs144890720	0.00013
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr)	rs200018583
NM_002769.5(PRSS1):c.200+1G>A	rs143909348

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