ClinVar Miner

List of variants reported as pathogenic for acromesomelic dysplasia 1, Maroteaux type by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter) rs121912739 0.00001
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter) rs1057519324 0.00001
NM_003995.4(NPR2):c.2245C>T (p.Arg749Trp) rs61758531 0.00001
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln) rs780293535 0.00001
NM_003995.4(NPR2):c.2341C>T (p.Gln781Ter) rs768852284 0.00001
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met) rs1311857509 0.00001
NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter) rs767258629
NM_003995.4(NPR2):c.1092del (p.Ile364fs) rs879255257
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln) rs1828106198
NM_003995.4(NPR2):c.1257G>A (p.Trp419Ter)
NM_003995.4(NPR2):c.1511C>G (p.Ser504Ter)
NM_003995.4(NPR2):c.1699G>T (p.Glu567Ter) rs2132082975
NM_003995.4(NPR2):c.1801C>A (p.Arg601Ser)
NM_003995.4(NPR2):c.2221C>T (p.Arg741Ter) rs2132090998
NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter) rs753472316
NM_003995.4(NPR2):c.2424T>G (p.Tyr808Ter)
NM_003995.4(NPR2):c.2527del (p.Ala843fs) rs1588068987
NM_003995.4(NPR2):c.2738dup (p.Met913fs)
NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter) rs1554674642
NM_003995.4(NPR2):c.2845C>T (p.Arg949Ter) rs1452208078
NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu) rs771373457
NM_003995.4(NPR2):c.507del (p.Tyr170fs) rs2132066904
NM_003995.4(NPR2):c.60del (p.Ala22fs) rs2132066003
NM_003995.4(NPR2):c.613C>T (p.Arg205Ter) rs1180840764
NM_003995.4(NPR2):c.721C>T (p.Gln241Ter)
NM_003995.4(NPR2):c.844C>T (p.Gln282Ter)

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