List of variants reported as pathogenic for Achondrogenesis, type IB by Baylor Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00106
NM_000112.4(SLC26A2):c.-26+2T>C	rs386833492	0.00055
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	rs104893924	0.00014
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	rs104893919	0.00012
NM_000112.4(SLC26A2):c.700-1G>C	rs200963884	0.00005
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)	rs386833497	0.00003
NM_000112.4(SLC26A2):c.145del (p.Arg49fs)	rs1265764649	0.00001
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)	rs121908077
NM_000112.4(SLC26A2):c.1343C>A (p.Ser448Ter)
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)	rs386833498
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)	rs1057517530
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)	rs1554095397
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)	rs786204675
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)	rs763198695
NM_000112.4(SLC26A2):c.819del (p.Leu275fs)	rs750882937

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