List of variants reported as likely pathogenic for McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)	rs74315398	0.00006
NM_170784.3(MKKS):c.251_252del (p.His84fs)	rs756259125	0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)	rs768929313	0.00001
NM_170784.3(MKKS):c.1273-1G>C
NM_170784.3(MKKS):c.1368del (p.Val457fs)
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter)
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)	rs1334961999
NM_170784.3(MKKS):c.196_197insCT (p.His66fs)
NM_170784.3(MKKS):c.348del (p.Ile117fs)
NM_170784.3(MKKS):c.63_64del (p.Arg21fs)	rs754066841

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