List of variants studied for Ciliary dyskinesia, primary, 50

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_018897.3(DNAH7):c.6492G>A (p.Met2164Ile)	rs192120666	0.00030
NM_018897.3(DNAH7):c.3025C>T (p.Arg1009Ter)	rs371925699	0.00018
NM_018897.3(DNAH7):c.5587G>A (p.Asp1863Asn)	rs118190947	0.00009
NM_018897.3(DNAH7):c.6347A>G (p.Asn2116Ser)	rs368962919	0.00006
NM_018897.3(DNAH7):c.6311C>G (p.Pro2104Arg)	rs374978907	0.00001
NM_018897.3(DNAH7):c.10390G>A (p.Gly3464Ser)	rs2469306647
NM_018897.3(DNAH7):c.10601A>G (p.Gln3534Arg)	rs1696041485
NM_018897.3(DNAH7):c.10971C>A (p.Ser3657Arg)	rs2469221804
NM_018897.3(DNAH7):c.1754+1G>A	rs2125631883
NM_018897.3(DNAH7):c.2478dup (p.Val827fs)	rs752238407
NM_018897.3(DNAH7):c.5411del (p.Leu1804fs)	rs763829514
NM_018897.3(DNAH7):c.9611G>A (p.Arg3204His)	rs199798030
NM_018897.3(DNAH7):c.9888+1G>A	rs2469365553

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