List of variants reported as pathogenic by GenePathDx, GenePath diagnostics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	rs121913224
NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe)	rs1064797072
NM_000054.7(AVPR2):c.878G>A (p.Trp293Ter)	rs1064797077
NM_000127.3(EXT1):c.1418-2A>G	rs1554578802
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)	rs63750086
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs)	rs1064797076
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)	rs764698870
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)	rs137852813
NM_020975.6(RET):c.2410G>T (p.Val804Leu)	rs79658334
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg)	rs104886225

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