List of variants studied for reproductive system disorder by Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)	rs41557217	0.00064
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)	rs62625308	0.00001
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)	rs587782861
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)	rs1064795256
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)	rs587779243
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)	rs63750086
NM_002485.5(NBN):c.1071dup (p.Val358fs)	rs2129745554
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)	rs772909239
NM_002878.4(RAD51D):c.24_27del (p.Cys9fs)	rs2142480769
NM_002878.4(RAD51D):c.480+1G>A	rs1597862471
NM_007194.4(CHEK2):c.792+2T>A	rs545982789
NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter)	rs397508926
NM_007294.4(BRCA1):c.2640_2643dup (p.Cys882fs)	rs2154367150
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)	rs80357223
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)	rs80357609
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)	rs80357678
NM_007294.4(BRCA1):c.445G>T (p.Glu149Ter)	rs876658381
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)	rs747539984
NM_024675.4(PALB2):c.3483del (p.Phe1161fs)	rs2142252781

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